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AA amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2020) Amylose AA - PNDS
AApoAI amyloidosis
- Article for general public
  Français (2014) - SNFMI
AApoAII amyloidosis
- Article for general public
  Français (2014) - SNFMI
AApoAIV amyloidosis
- Article for general public
  Français (2014) - SNFMI
Aarskog-Scott syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Syndrome d'Aarskog-Scott - PNDS
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
ABeta amyloidosis, Arctic type
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
ABeta amyloidosis, Dutch type
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) Cerebral amyloid angiopathy in the elderly - Ann Neurol
ABeta amyloidosis, Iowa type
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
ABeta amyloidosis, Italian type
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
ABeta2M amyloidosis
- Article for general public
  Français (2014) - SNFMI
ABetaA21G amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
ABetaL34V amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Review article
  English (2011) - Annals Neurol
Abetalipoproteinemia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Hypocholestérolémies génétiques intestinales - PNDS
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Abnormal number of coronary ostia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Abnormal origin of right or left pulmonary artery from the aorta
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Abnormal origin of the pulmonary artery
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
ABri amyloidosis
- Article for general public
  Français (2014) - SNFMI
Abruzzo-Erickson syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Absence of innominate vein
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Absence of the pulmonary artery
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Absence of uterine body
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Absent thumb-short stature-immunodeficiency syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Accessory mitral valve tissue
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aceruloplasminemia
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Clinical practice guidelines
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2018) - GeneReviews
Acetazolamide-responsive myotonia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Achondrogenesis type 1B
- Clinical genetics review
  English (2023) Achondrogenesis Type 1B - GeneReviews
Achondrogenesis type 2
- Clinical genetics review
  English (2019) Type II Collagen Disorders Overview - GeneReviews
Achondroplasia
- Article for general public
  Français (2019) - Tous à l'école
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2025) Achondroplasie - PNDS
  
  English (2021) The first European consensus on principles of management for achondroplasia - Orphanet J Rare Dis
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Achondroplasia - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Achromatopsia
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Acid sphingomyelinase deficiency
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
- Clinical genetics review
  English (2023) Acid Sphingomyelinase Deficiency - GeneReviews
Acinar cell carcinoma of pancreas
- Article for general public
  Français (2012) - INCa
  
  Deutsch (2010) - Onkopedia
- Clinical practice guidelines
  Français (2010) - ALD
- Review article
  Deutsch (2018) - Onkopedia
  
  English (2017) - PDQ Cancer Inf Sum
Acquired angioedema
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
  
  Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Acquired angioedema type 1
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
  
  Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Acquired angioedema type 2
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009.pdf) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
  
  Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Acquired angioedema with C1Inh deficiency
- Emergency guidelines
  Français (2021.pdf) Angidème bradykinique - Orphanet Urgences
  
  Polski (2009) Obrzek naczynioruchowy niehistaminowy - Orphanet Urgences
  
  Deutsch (2009.pdf) Nicht-histaminvermitteltes Angioödem - Orphanet Urgences
  
  English (2009.pdf) Non histamine-induced angioedema - Orphanet Urgences
  
  Español (2017.pdf) Angioedema mediado por bradicinina - Orphanet Urgences
  
  Italiano (2009.pdf) Angioedema non istaminico - Orphanet Urgences
  
  Português (2009.pdf) Angioderma nao induzido pela histamina - Orphanet Urgences
- Diagnostic Keys
  Français (2024) Angioedème isolé - Les clés du diagnostic
Acquired arginine vasopressin deficiency
- Emergency guidelines
  Français (2017.pdf) Diabète insipide dorigine centrale - Orphanet Urgences
  
  Español (2017.pdf) Diabetes insípida central - Orphanet Urgences
Acquired ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Acquired chronic primary adrenal insufficiency
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
- Clinical practice guidelines
  English (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Acquired Creutzfeldt-Jakob disease
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Acquired cystic disease-associated renal cell carcinoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
Acquired generalized lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
- Review article
  Deutsch (2020) - Onkopedia
Acquired hemophilia A
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  English (2021) Principles of care for acquired hemophilia - Eur J Haematol
Acquired hemophilia B
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  English (2021) Principles of care for acquired hemophilia - Eur J Haematol
Acquired ichthyosis
- Clinical practice guidelines
  Deutsch (2016) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acquired idiopathic sideroblastic anemia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
  
  English (2019) Refractory anemia with ring sideroblasts (RARS) and RARS with thrombocytosis: ''2019 Update on Diagnosis, Risk-stratification, and Management'' - Am J Hematol
  
  English (2017) Allogeneic hematopoietic stem cell transplantation for MDS and CMML: recommendations from an international expert panel - Blood
  
  English (2013) Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet - Blood
- Review article
  Deutsch (2021) - Onkopedia
  
  English (2021) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acquired immunodeficiency
- Emergency guidelines
  Français (2020.pdf) Déficits immunitaires humoraux chez ladulte - Orphanet Urgences
Acquired lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Acquired methemoglobinemia
- Clinical practice guidelines
  English (2021) Recommendations for diagnosis and treatment of methemoglobinemia - Am J Hematol
  
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
Acquired motor neuron disease
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acquired neutropenia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Acquired partial lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
Acquired peripheral neuropathy
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Diagnostic criteria
  Deutsch (2024) - AWMF
Acquired pituitary hormone deficiency
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2016) Hormonal Replacement in Hypopituitarism in Adults: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
Acquired pseudoxanthoma elasticum
- Clinical practice guidelines
  Français (2021) Pseudoxanthome élastique (PXE) - PNDS
  
  English (2022) Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee - J Dermatol
Acquired secondary polycythemia
- Clinical practice guidelines
  English (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
Acquired von Willebrand syndrome
- Emergency guidelines
  Français (2019.pdf) Maladie de von Willebrand - Orphanet Urgences
Acral peeling skin syndrome
- Clinical practice guidelines
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Acral self-healing collodion baby
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
  
  English (2023) Autosomal Recessive Congenital Ichthyosis - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acro-renal-ocular syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2022) SALL4-Related Disorders - GeneReviews
Acrocallosal syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Acrocardiofacial syndrome
- Review article
  English (2010) - Orphanet J Rare Dis
Acrodermatitis enteropathica
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Acrofacial dysostosis, Weyers type
- Article for general public
  Svenska (2019) - Socialstyrelsen
Acrofrontofacionasal dysostosis
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Acromegaly
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Español (2013.pdf) - IMC
- Clinical practice guidelines
  Français (2021) Acromégalie - PNDS
  
  English (2011) American Association of Clinical Endocrinologists Medical Guidelines for Clinical Practice for the Diagnosis and Treatment of Acromegaly--2011 update: executive summary - Endocr Pract
  
  English (2020) Multidisciplinary management of acromegaly: A consensus - Rev Endocr Metab Disord
  
  English (2014) Acromegaly: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
  
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
- Review article
  English (2008) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acromicric dysplasia
- Clinical practice guidelines
  Français (2021) Dysplasies géléophysiques et dysplasies acromicriques - PNDS
ACTH-dependent Cushing syndrome
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2015) Treatment of Cushing's Syndrome: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  Español (2010.pdf) - CIBERER
- Review article
  English (2015) Cushing's syndrome: epidemiology and developments in disease management - Clin Epidemiol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Action myoclonus-renal failure syndrome
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2023) SCARB2-Related Action Myoclonus Renal Failure Syndrome - GeneReviews
Activated PI3K-delta syndrome
- Article for general public
  Deutsch (2017.pdf) - Centrum für Chronische Immundefizienz
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Acute adrenal insufficiency
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Português (2015) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2020) - AWMF
  
  English (2016) Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline - J Clin Endocrinol Metab
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Acute basophilic leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute disseminated encephalomyelitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Review article
  English (2008) Acute disseminated encephalomyelitis: current understanding and controversies - Semin Neurol
Acute disseminated encephalomyelitis with anti-MOG antibodies
- Clinical practice guidelines
  Français (2022) Le spectre des maladies à anticorps anti-MOG - PNDS
  
  Deutsch (2023) - AWMF
Acute encephalopathy with biphasic seizures and late reduced diffusion
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Acute encephalopathy with inflammation-mediated status epilepticus
- Article for general public
  Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Acute erythroid leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute generalized exanthematous pustulosis
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Acute graft versus host disease
- Clinical practice guidelines
  English (2017) The EBMT-ELN working group recommendations on the prophylaxis and treatment of GvHD: a change-control analysis - Bone Marrow Transplant
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute hepatic porphyria
- Article for general public
  Svenska (2023) Akuta hepatiska porfyrier - Socialstyrelsen
- Emergency guidelines
  Français (2016.pdf) Porphyrie hépatique aiguë - Orphanet Urgences
  
  Polski (2007.pdf) Ostre porfirie watrobowe, objawy nerwowo-trzewne - Orphanet Urgences
  
  English (2007.pdf) Acute hepatic porphyria neuro-visceral crisis - Orphanet Urgences
  
  Español (2007.pdf) Porfirias hepáticas agudas - Orphanet Urgences
  
  Italiano (2016.pdf) Porfiria epatica acuta - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Clinical practice guidelines
  English (2017) EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure - J Hepatol
- Clinical genetics review
  English (2023) TRMU Deficiency - GeneReviews
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2021) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  English (2017) EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure - J Hepatol
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute infantile liver failure-multisystemic involvement syndrome
- Clinical practice guidelines
  English (2017) EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure - J Hepatol
Acute inflammatory demyelinating polyradiculoneuropathy
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute intermittent porphyria
- Article for general public
  Svenska (2023) Akuta hepatiska porfyrier - Socialstyrelsen
- Emergency guidelines
  Français (2016.pdf) Porphyrie hépatique aiguë - Orphanet Urgences
  
  Polski (2007.pdf) Ostre porfirie watrobowe, objawy nerwowo-trzewne - Orphanet Urgences
  
  English (2007.pdf) Acute hepatic porphyria neuro-visceral crisis - Orphanet Urgences
  
  Español (2007.pdf) Porfirias hepáticas agudas - Orphanet Urgences
  
  Italiano (2016.pdf) Porfiria epatica acuta - Orphanet Urgences
  
  Italiano (2007.pdf) Porfirie acute epatiche - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2019) - GeneReviews
Acute interstitial pneumonia
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Acute leukemia of ambiguous lineage
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute liver failure
- Clinical practice guidelines
  English (2020) Cholangiocarcinoma 2020: the next horizon in mechanisms and management - Nat Rev Gastroenterol Hepatol
  
  English (2017) EASL Clinical Practical Guidelines on the management of acute (fulminant) liver failure - J Hepatol
Acute lymphoblastic leukemia
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2020) Pediatric Acute Lymphoblastic Leukemia, Version 2.2020, NCCN Clinical Practice Guidelines in Oncology - J Natl Compr Canc Netw
- Review article
  Deutsch (2022) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute mast cell leukemia
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute megakaryoblastic leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute megakaryoblastic leukemia in children with Down syndrome
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute megakaryoblastic leukemia in children without Down syndrome
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute monoblastic/monocytic leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute motor and sensory axonal neuropathy
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute motor axonal neuropathy
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloblastic leukemia with maturation
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloblastic leukemia without maturation
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukaemia with myelodysplasia-related features
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
  
  English (2021) 2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party - Blood
- Review article
  Deutsch (2023) - Onkopedia
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2008) Syndromes myélodysplasiques - PNDS
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with 11q23 abnormalities
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with CEBPA somatic mutations
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with minimal differentiation
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with NPM1 somatic mutations
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with recurrent genetic anomaly
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with t(6;9)(p23;q34)
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with t(9;11)(p22;q23)
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
- Clinical practice guidelines
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute myelomonocytic leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute necrotizing encephalopathy of childhood
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Acute neonatal citrullinemia type I
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Acute pandysautonomia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute panmyelosis with myelofibrosis
- Article for general public
  Deutsch (2022) - Onkopedia
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute promyelocytic leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  Français (2011) - ALD
  
  English (2019) Management of acute promyelocytic leukemia: updated recommendations from an expert panel of the European LeukemiaNet - Blood
  
  English (2009) Management of acute promyelocytic leukemia: recommendations from an expert panel on behalf of the European LeukemiaNet - Blood
  
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2022) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute pure sensory neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute sensory ataxic neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Acute transverse myelitis
- Anesthesia guidelines
  English (2021) - Orphananesthesia
- Review article
  English (2008) An approach to the diagnosis of acute transverse myelitis - Semin Neurol
Acute transverse myelitis with anti-MOG antibodies
- Anesthesia guidelines
  English (2021) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Le spectre des maladies à anticorps anti-MOG - PNDS
  
  Deutsch (2023) - AWMF
Acute undifferentiated leukemia
- Article for general public
  Deutsch (2022) - Onkopedia
- Clinical practice guidelines
  English (2017) Diagnosis and management of AML in adults: 2017 ELN recommendations from an international expert panel - Blood
- Review article
  Deutsch (2017) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
ACys amyloidosis
- Article for general public
  Français (2014) - SNFMI
Adams-Oliver syndrome
- Article for general public
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
- Clinical genetics review
  English (2016) - GeneReviews
ADan amyloidosis
- Article for general public
  Français (2014) - SNFMI
Addison disease
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
  
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2019.pdf) Insuffisance surrénale aiguë (ISA) - Orphanet Urgences
  
  Italiano (2015.pdf) Insufficienza surrenalica - Orphanet Urgences
Adducted thumbs-arthrogryposis syndrome, Christian type
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
Adenine phosphoribosyltransferase deficiency
- Clinical practice guidelines
  Français (2021) Lithiase urinaire de lenfant - PNDS
- Clinical genetics review
  English (2019) Adenine Phosphoribosyltransferase Deficiency - GeneReviews
Adenocarcinoma of ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Adenocarcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
- Clinical practice guidelines
  English (2023) Biliary tract cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
Adenocarcinoma of the liver and intrahepatic biliary tract
- Clinical practice guidelines
  English (2023) Biliary tract cancer: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
Adenocarcinoma of the oesophagus and oesophagogastric junction
- Article for general public
  Français (2015) - INCa
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2023) - AWMF
  
  English (2011) Guidelines for the management of oesophageal and gastric cancer - Gut
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Adenocarcinoma of the penis
- Clinical practice guidelines
  English (2013) - AnnOncol
  
  English (2021) Management of penile cancer patients during the COVID-19 pandemic: An eUROGEN accelerated Delphi consensus study - Urol Oncol
Adenoid basal carcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Adenoid cystic carcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Adenosarcoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
Adenosarcoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
Adenosine monophosphate deaminase deficiency
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Adermatopathic dermatomyositis
- Clinical practice guidelines
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
Adiposis dolorosa
- Review article
  English (2012) - Orphanet J Rare Dis
ADNP syndrome
- Article for general public
  English (2016.pdf) ADNP Related Syndrome - Unique
  
  Nederlands (2016.pdf) ADNP Related Syndrome - Unique
- Clinical genetics review
  English (2022) ADNP-Related Disorder - GeneReviews
Adolescent-onset epilepsy syndrome
- Article for general public
  Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Adrenal Cushing syndrome
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
Adrenal hypoplasia congenita
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Adrenal/paraganglial tumor
- Article for general public
  English (2011) - PDQ Cancer Inf Sum
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2014) Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline - J Clin Endocrinol Metab
- Review article
  English (2006) - Orphanet J Rare Dis
Adrenocortical carcinoma
- Article for general public
  Français (2013.pdf) - Institut Gustave Roussy
- Clinical practice guidelines
  Français (2022) Syndrome de Cushing - PNDS
  
  English (2020) Adrenocortical carcinomas and malignant phaeochromocytomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2015) Cushing's syndrome: epidemiology and developments in disease management - Clin Epidemiol
Adrenocortical carcinoma with pure aldosterone hypersecretion
- Clinical practice guidelines
  English (2018) European Society of Endocrinology Clinical Practice Guidelines on the management of adrenocortical carcinoma in adults, in collaboration with the European Network for the Study of Adrenal Tumors - Eur J Endocrinol
Adrenogenital syndrome
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Adrenomyeloneuropathy
- Article for general public
  Deutsch (2014.pdf) - ÄZQ
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) X-Linked Adrenoleukodystrophy - GeneReviews
Adrenomyodystrophy
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Adult acute respiratory distress syndrome
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Adult hepatocellular carcinoma
- Clinical practice guidelines
  Français (2010) - ALD
  
  Español (2021) Diagnóstico y tratamiento del carcinoma hepatocelular. Actualización del documento de consenso de la AEEH, AEC, SEOM, SERAM, SERVEI y SETH - Med Clin (Barc)
Adult hypophosphatasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Hypophosphatasie - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Hypophosphatasie - PNDS
  
  English (2020) Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment - Osteoporos Int
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hypophosphatasia - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Adult idiopathic neutropenia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Adult Krabbe disease
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2018) - GeneReviews
Adult polyglucosan body disease
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
ADULT syndrome
- Clinical genetics review
  English (2021) TP63-Related Disorders - GeneReviews
Adult T-cell leukemia/lymphoma
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Adult-onset autosomal dominant leukodystrophy
- Article for general public
  Svenska (2023) LMNB1-relaterad autosomal dominant leukodystrofi - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2021) LMNB1-Related Autosomal Dominant Leukodystrophy - GeneReviews
Adult-onset autosomal recessive cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Adult-onset autosomal recessive sideroblastic anemia
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Adult-onset cervical dystonia, DYT23 type
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
- Clinical genetics review
  English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
Adult-onset dystonia-parkinsonism
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Clinical practice guidelines
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2017) PLA2G6-Associated Neurodegeneration - GeneReviews
Adult-onset foveomacular vitelliform dystrophy
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2017) CSF1R-Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia - GeneReviews
  
  English (2024) AARS2-Related Disorder - GeneReviews
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
Adult-onset myasthenia gravis
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Emergency guidelines
  Français (2018.pdf) Myasthénie autoimmune - Orphanet Urgences
  
  Deutsch (2010.pdf) Myasthenia gravis - Orphanet Urgences
  
  English (2010.pdf) Autoimmune myasthenia - Orphanet Urgences
  
  Español (2010.pdf) Miastenia autoinmune - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Myasthénie autoimmune - PNDS
  
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Deutsch (2022) - AWMF
- Review article
  English (2012) Myasthenia gravis: a review - Autoimmune Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Adult-onset nemaline myopathy
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical practice guidelines
  English (2012) Consensus Statement on Standard of Care for Congenital Myopathies - J Child Neurol
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Adult-onset progressive leukoencephalopathy-early-onset deafness
- Clinical practice guidelines
  Deutsch (2022) Leukencephalopathien im Erwachsenenalter - AWMF
Adult-onset Steinert myotonic dystrophy
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2009) - ANPGM
Adult-onset Still disease
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2018) Maladie de Still de l'adulte - PNDS
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Review article
  Français (2015) Données actualisées sur la physiopathologie, les phénotypes et les traitements de la maladie de Still de ladulte - Rev Med Interne
  
  English (2014) Adult-onset Still's disease - Autoimmun Rev
- Diagnostic criteria
  English (1992) Preliminary criteria for classification of adult Still's disease - J Rheumatol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
AFib amyloidosis
- Article for general public
  Français (2014) - SNFMI
Agammaglobulinemia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
AGel amyloidosis
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2023) Hereditär gelsolinamyloidos - Socialstyrelsen
- Clinical practice guidelines
  Français (2017) Neuropathie amyloïde familiale - PNDS
- Review article
  English (2009) - Orphanet J Rare Dis
Aggressive B-cell non-Hodgkin lymphoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Aggressive NK-cell leukemia
- Review article
  English (2013) - Orphanet J Rare Dis
Aggressive periodontitis
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Aggressive primary cutaneous B-cell lymphoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Aggressive primary cutaneous T-cell lymphoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Aggressive systemic mastocytosis
- Emergency guidelines
  Français (2024.pdf) Mastocytoses - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Mastocytoses non-avancées chez ladulte - PNDS
  
  English (2015) Diagnosis and management of mastocytosis: an emerging challenge in applied hematology - Hematology Am Soc Hematol Educ Program
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Review article
  English (2019) Systemic mastocytosis in adults: 2019 update on diagnosis, risk stratification and management - Am J Hematol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
AH amyloidosis
- Article for general public
  Français (2014) - SNFMI
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
- Clinical genetics review
  English (2022) - GeneReviews
Aicardi syndrome
- Article for general public
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Syndrome dAicardi - PNDS
  
  Français (2019) Syndrome dAicardi - PNDS
  
  Français (2019) Syndrome dAicardi - PNDS
- Clinical genetics review
  English (2020) - GeneReviews
Aicardi-Goutières syndrome
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2016) - GeneReviews
Airway infantile hemangioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
AKT2-related familial partial lipodystrophy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
- Guidance for genetic testing
  English (2016) - Eur J Hum Genet
AL amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Emergency guidelines
  Français (2015.pdf) Amylose AL - Orphanet Urgences
  
  Español (2017.pdf) Amiloidosis AL - Orphanet Urgences
- Clinical practice guidelines
  Français (2023) Amylose AL - PNDS
  
  Français (2021) Amylose cardiaque - PNDS
- Review article
  Deutsch (2022) - Onkopedia
  
  English (2012) - Orphanet J Rare Dis
Alacrimia-choreoathetosis-liver dysfunction syndrome
- Review article
  English (2021) NGLY1 deficiency: Novel variants and literature review - Eur J Med Genet
- Clinical genetics review
  English (2018) NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews
Alagille syndrome
- Article for general public
  Deutsch (2015.pdf) - BVHK
  
  Svenska (2014) - Socialstyrelsen
- Clinical genetics review
  English (2011) - Eur J Hum Genet
  
  English (2019) - GeneReviews
- Guidance for genetic testing
  Deutsch (2015.pdf) - Kardiologe
  
  English (2013) - Eur J Hum Genet
Alagille syndrome due to 20p12 microdeletion
- Article for general public
  Svenska (2014) - Socialstyrelsen
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Alagille syndrome due to a JAG1 point mutation
- Article for general public
  Svenska (2014) - Socialstyrelsen
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Alagille syndrome due to a NOTCH2 point mutation
- Article for general public
  Svenska (2014) - Socialstyrelsen
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Alazami syndrome
- Article for general public
  Русский (2019.pdf) Alazami syndrome - Unique
Albers-Schönberg osteopetrosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
ALDH18A1-related De Barsy syndrome
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
ALECT2 amyloidosis
- Article for general public
  Français (2014) - SNFMI
Alexander disease
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2020) - GeneReviews
Alexander disease type I
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2020) - GeneReviews
Alexander disease type II
- Article for general public
  Deutsch (2015.pdf) - ACHSE
  
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2020) - GeneReviews
ALG1-CDG
- Clinical genetics review
  English (2017) - GeneReviews
- Guidance for genetic testing
  English (2015) - Eur J Hum Genet
ALG11-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
ALG12-CDG
- Clinical genetics review
  English (2017) - GeneReviews
ALG13-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
ALG2-CDG
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2017) - GeneReviews
ALG3-CDG
- Clinical genetics review
  English (2017) - GeneReviews
ALG6-CDG
- Clinical genetics review
  English (2017) - GeneReviews
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
ALG8-CDG
- Clinical genetics review
  English (2017) - GeneReviews
ALG9-CDG
- Clinical genetics review
  English (2017) - GeneReviews
ALK-negative anaplastic large cell lymphoma
- Clinical practice guidelines
  English (2011) Guidelines for the management of mature T-cell and NK-cell neoplasms (excluding cutaneous T-cell lymphoma) - Br J Haematol
- Review article
  English (2013) - Oncol Hematol
ALK-positive anaplastic large cell lymphoma
- Clinical practice guidelines
  English (2011) Guidelines for the management of mature T-cell and NK-cell neoplasms (excluding cutaneous T-cell lymphoma) - Br J Haematol
ALK-positive large B-cell lymphoma
- Review article
  Deutsch (2022) - Onkopedia
Alkaptonuria
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Review article
  English (2013) 'Recent advances in management of alkaptonuria (invited review; best practice article)' - J Clin Pathol
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Allan-Herndon-Dudley syndrome
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome de Allan Herndon-Dudley (SAHD)(MCT8 thyroid hormone transporter) - PNDS
  
  Français (2020) Syndrome de Allan Herndon-Dudley (SAHD)(MCT8 thyroid hormone transporter) - PNDS
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2020) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Allergic bronchopulmonary aspergillosis
- Clinical practice guidelines
  Français (2021) Aspergillose broncho-pulmonaire allergique (hors mucoviscidose) - PNDS
Alobar holoprosencephaly
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Alopecia antibody deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Alpers-Huttenlocher syndrome
- Article for general public
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
- Review article
  English (2013) Alpers-Huttenlocher Syndrome - Pediatr Neurol
- Clinical genetics review
  English (2018) POLG-Related Disorders - GeneReviews
Alpha delta granule deficiency
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Alpha granule disease
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
Alpha-1-antitrypsin deficiency
- Article for general public
  Français (2013.pdf) - ELF
  
  Polski (2021) - ELF
  
  Deutsch (2023) - ELF
  
  Ελληνικά (2013.pdf) - ELF
  
  English (2023) - ELF
  
  Español (2021) - ELF
  
  Русский (2013.pdf) - ELF
  
  Italiano (2021) - ELF
- Emergency guidelines
  Français (2021.pdf) Déficit en alpha1-antitrypsine - Orphanet Urgences
  
  Deutsch (2014.pdf) Alpha-1-Antitrypsin-Mangel - Orphanet Urgences
  
  English (2010.pdf) Alpha-1 antitrypsin deficiency - Orphanet Urgences
  
  Español (2023.pdf) Déficit de alfa-1 antitripsina - Orphanet Urgences
  
  Italiano (2012.pdf) Deficit di alfa-1-antitripsina - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Atteinte pulmonaire associée à un déficit en alpha1-antitrypsine - PNDS
  
  English (2017) European Respiratory Society statement: diagnosis and treatment of pulmonary disease in ?1-antitrypsin deficiency - Eur Respir J
- Review article
  English (2020) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Alpha1-Antitrypsin Deficiency - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Alpha-B crystallin-related late-onset myopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Alpha-crystallinopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Alpha-mannosidosis
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
  
  Português (2013) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Alpha-mannosidose - PNDS
- Review article
  English (2008) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Alpha-mannosidosis, adult form
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
  
  Português (2013) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2008) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Alpha-mannosidosis, infantile form
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Review article
  English (2008) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Alpha-thalassemia
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Syndromes thalassémiques majeurs et intermédiaires - PNDS
  
  Deutsch (2023) - AWMF
  
  Deutsch (2022) - AWMF
  
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
Alpha-thalassemia and related disorders
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Alpha-thalassemia-myelodysplastic syndrome
- Clinical practice guidelines
  English (2015) EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies - Eur J Hum Genet
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Alport syndrome
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Español (2020.pdf) Síndrome de Alport - AIRG-España
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Italiano (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2013) Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative - Pediatr Nephrol
  
  English (2021) Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria - Eur J Hum Genet
  
  English (2019) Expert consensus guidelines for the genetic diagnosis of Alport syndrome - Pediatr Nephrol
  
  English (2013) Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy - J Am Soc Nephrol
  
  English (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN - Nephrol Dial Transplant
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2019) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Italiano (2018) - Orphananesthesia
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Alström syndrome
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
  
  Svenska (2014) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Syndrome d'Alström - PNDS
  
  English (2020) Consensus clinical management guidelines for Alström syndrome - Orphanet J Rare Dis
  
  Español (2010.pdf) - ECEMC
- Clinical genetics review
  English (2007.pdf) - Eur J Hum Genet
  
  English (2019) Alström Syndrome - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Alternating hemiplegia
- Emergency guidelines
  Français (2017.pdf) Hémiplégie alternante de lenfance - Orphanet Urgences
Alternating hemiplegia of childhood
- Emergency guidelines
  Français (2017.pdf) Hémiplégie alternante de lenfance - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical genetics review
  English (2018) - GeneReviews
Alveolar echinococcosis
- Clinical practice guidelines
  English (2010) Expert consensus for the diagnosis and treatment of cystic and alveolar echinococcosis in humans - Acta Trop
Alveolar rhabdomyosarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  English (2016) - PDQ Cancer Inf Sum
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Alveolar soft tissue sarcoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
ALys amyloidosis
- Article for general public
  Français (2014) - SNFMI
Amelocerebrohypohidrotic syndrome
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
Amelogenesis imperfecta
- Clinical practice guidelines
  Français (2021) Amélogenèses imparfaites - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
Aminoacylase deficiency
- Article for general public
  Polski (2011.pdf) - EIMD
Amish lethal microcephaly
- Clinical practice guidelines
  Deutsch (2019) - AWMF
- Clinical genetics review
  English (2023) SLC25A19-Related Thiamine Metabolism Dysfunction - GeneReviews
Amish nemaline myopathy
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Amniotic band syndrome
- Article for general public
  Deutsch (2019.pdf) - Kindernetzwerk e.V.
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Português (2017) - Orphananesthesia
Amoebiasis due to Entamoeba histolytica
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Amyloidosis
- Article for general public
  Français (2014) - SNFMI
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Amyopathic dermatomyositis
- Clinical practice guidelines
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
Amyotrophic lateral sclerosis
- Article for general public
  Français (2008.pdf) - Orphanet
  
  Español (2018) - SEPAR
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2016.pdf) Sclérose latérale amyotrophique - Orphanet Urgences
  
  Polski (2007.pdf) Stwardnienie zanikowe boczne - Orphanet Urgences
  
  Deutsch (2007.pdf) Amyotrophe Lateralsklerose - Orphanet Urgences
  
  English (2007.pdf) Amyotrophic lateral sclerosis - Orphanet Urgences
  
  Español (2017.pdf) Esclerosis lateral amiotrófica - Orphanet Urgences
  
  Italiano (2007.pdf) Sclerosi laterale amiotrofica - Orphanet Urgences
  
  Português (2007.pdf) Esclerose lateral amiotrófica - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2021) - Orphananesthesia
  
  English (2021) - Orphananesthesia
  
  Español (2021) Recomendaciones anestésicas para pacientes con Esclerosis lateral amiotrófica - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Sclérose latérale amyotrophique - PNDS
  
  Français (2021) Génétique de la Sclérose Latérale Amyotrophique - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2024) European Academy of Neurology (EAN) guideline on the management of amyotrophic lateral sclerosis in collaboration with European Reference Network for Neuromuscular Diseases (ERN EURO-NMD) - Eur J Neurol
  
  English (2012) EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force - Eur J Neurol
- Review article
  English (2012) Amyotrophic lateral sclerosis - Lancet
- Clinical genetics review
  English (2021) CHCHD10-Related Disorders - GeneReviews
  
  English (2020) C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis - GeneReviews
  
  English (2023) TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia - GeneReviews
  
  English (2023) Amyotrophic Lateral Sclerosis Overview - GeneReviews
- Disability factsheet
  Français (2017.pdf) - Orphanet
  
  Español (2020.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Amyotrophic lateral sclerosis type 4
- Clinical practice guidelines
  Français (2021) Génétique de la Sclérose Latérale Amyotrophique - PNDS
  
  Français (2015) Sclérose latérale amyotrophique - PNDS
- Clinical genetics review
  English (2023) Amyotrophic Lateral Sclerosis Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Anaplastic astrocytoma
- Clinical practice guidelines
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Anaplastic ependymoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Anaplastic ganglioglioma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Anaplastic large cell lymphoma
- Clinical practice guidelines
  English (2011) Guidelines for the management of mature T-cell and NK-cell neoplasms (excluding cutaneous T-cell lymphoma) - Br J Haematol
Anaplastic oligoastrocytoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Anaplastic oligodendroglioma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
- Clinical genetics review
  English (2022) POT1 Tumor Predisposition - GeneReviews
Anaplastic thyroid carcinoma
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
- Review article
  Français (2008.pdf) - Ann Endocrinol
Anaplastic/large cell medulloblastoma
- Clinical practice guidelines
  English (2019) EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma - Lancet Oncol
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Anauxetic dysplasia
- Clinical genetics review
  English (2023) Cartilage-Hair Hypoplasia - Anauxetic Dysplasia Spectrum Disorders - GeneReviews
Andersen-Tawil syndrome
- Emergency guidelines
  Français (2017.pdf) Tachycardie ventriculaire catécholergique (TVC) - Orphanet Urgences
  
  Deutsch (2014.pdf) Katecholaminerge polymorphe ventrikuläre Tachykardie - Orphanet Urgences
  
  Español (2010.pdf) Taquicardia ventricular catecolaminérgica - Orphanet Urgences
  
  Italiano (2010.pdf) Tachicardia ventricolare catecolaminergica - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome du QT Long - PNDS
  
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2018) Andersen-Tawil Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
  
  English (2013) - Eur J Hum Genet
Androgen insensitivity syndrome
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2017) Insensibilités aux androgènes - PNDS
  
  English (2018) Genetics in endocrinology: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 DSDnet - Eur J Endocrinol
  
  English (2018) Caring for individuals with a difference of sex development (DSD): a Consensus Statement - Nat Rev Endocrinol
  
  Español (2013.pdf) - GT-CSGP
- Review article
  English (2012) Androgen insensitivity syndrome - Lancet
- Clinical genetics review
  English (2017) Androgen Insensitivity Syndrome - GeneReviews
ANE syndrome
- Clinical practice guidelines
  English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
Aneurysm of sinus of Valsalva
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aneurysm-osteoarthritis syndrome
- Article for general public
  Français (2019.pdf) - Fondation Groupama
- Emergency guidelines
  Français (2017.pdf) Syndrome de Marfan et syndromes apparentés - Orphanet Urgences
  
  Polski (2007.pdf) Zespol Marfana - Orphanet Urgences
  
  Deutsch (2014.pdf) Marfan-Syndrom - Orphanet Urgences
  
  English (2007.pdf) Marfan Syndrome - Orphanet Urgences
  
  Español (2007.pdf) Síndrome de Marfan - Orphanet Urgences
  
  Italiano (2007.pdf) Marfan (Sindrome di Marfan) - Orphanet Urgences
  
  Português (2007.pdf) Síndrome Marfan - Orphanet Urgences
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical practice guidelines
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
  
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
Aneurysmal bone cyst
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Angelman syndrome
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome dAngelman - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2021) Angelman syndrome - GeneReviews
  
  English (2009.pdf) - Eur J Hum Genet
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Angelman syndrome due to a point mutation
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2012) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome dAngelman - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2021) Angelman Syndrome - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Angelman syndrome due to imprinting defect in 15q11-q13
- Article for general public
  Français (2015.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2012) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome dAngelman - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2021) Angelman Syndrome - GeneReviews
- Disability factsheet
  Français (2015.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Angelman syndrome due to maternal 15q11q13 deletion
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2012) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome dAngelman - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2021) Angelman Syndrome - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Español (2015.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
  
  Italiano (2019) - Orphananesthesia
  
  Português (2012) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome dAngelman - PNDS
  
  Deutsch (2020) - AWMF
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2021) Angelman Syndrome - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Angiocentric glioma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Angioimmunoblastic T-cell lymphoma
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
Angioosteohypertrophic syndrome
- Article for general public
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2017.pdf) Syndrome angio-ostéo-hypertrophique - Orphanet Urgences
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
Angiosarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
- Review article
  English (2009) - Orphanet J Rare Dis
Aniridia-absent patella syndrome
- Clinical practice guidelines
  Français (2019) Aniridie - PNDS
Aniridia-cerebellar ataxia-intellectual disability syndrome
- Article for general public
  Svenska (2021) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Aniridie - PNDS
Aniridia-renal agenesis-psychomotor retardation syndrome
- Clinical practice guidelines
  Français (2019) Aniridie - PNDS
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Clinical genetics review
  English (2021) TP63-Related Disorders - GeneReviews
Annular epidermolytic ichthyosis
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Anoctamin-5-related limb-girdle muscular dystrophy R12
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2019) ANO5 Muscle Disease - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Anodontia
- Clinical practice guidelines
  Français (2021) Agénésies dentaires multiples : oligodontie et anodontie - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Anomalous aortic origin of coronary artery
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomalous aortic origin of the left coronary artery
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomalous aortic origin of the right coronary artery
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomalous origin of coronary artery from the pulmonary artery
- Anesthesia guidelines
  English (2021) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomaly of the coronary ostia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomaly of the mitral subvalvular apparatus
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anomaly of the tricuspid subvalvular apparatus
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Anophthalmia plus syndrome
- Clinical practice guidelines
  Français (2022) Microphtalmie - Anophtalmie - PNDS
Anophthalmia/microphthalmia-esophageal atresia syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
  
  English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
- Clinical genetics review
  English (2020) SOX2 Disorder - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Anorectal malformation
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
- Clinical practice guidelines
  Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS
  
  Deutsch (2023) - AWMF
Antenatal multiminicore disease with arthrogryposis multiplex congenita
- Anesthesia guidelines
  English (2012) - Orphananesthesia
  
  Español (2012) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Anterior urethral valve
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2022) Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group - Nat Rev Urol
Anterior uveitis
- Article for general public
  Deutsch (2016.pdf) - DUAG
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Anti-glomerular basement membrane disease
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  English (2021) - Orphananesthesia
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Anti-neutrophil cytoplasmic antibody-associated vasculitis
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2020) 2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis - Arthritis Rheumatol
  
  English (2020) French recommendations for the management of systemic necrotizing vasculitides (polyarteritis nodosa and ANCA-associated vasculitides) - Orphanet J Rare Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
Anti-p200 pemphigoid
- Clinical practice guidelines
  English (2015) Pemphigus. S2 Guideline for diagnosis and treatment--guided by the European Dermatology Forum (EDF) in cooperation with the European Academy of Dermatology and Venereology (EADV) - J Eur Acad Dermatol Venereol
  
  English (2020) Diagnosis and management of pemphigus: Recommendations of an international panel of experts - J Am Acad Dermatol
Antiphospholipid syndrome
- Article for general public
  Français (2014) - SNFMI
  
  Français (2008.pdf) - Orphanet
- Diagnostic Keys
  Français (2021) Livédo - Les clés du diagnostic
- Clinical practice guidelines
  Français (2022) Syndrome des Anti-Phospholipides de ladulte et de lenfant - PNDS
  
  English (2017) EULAR recommendations for women's health and the management of family planning, assisted reproduction, pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome - Ann Rheum Dis
  
  English (2019) EULAR recommendations for the management of antiphospholipid syndrome in adults - Ann Rheum Dis
  
  English (2017) EULAR recommendations for women's health and the management of family planning, assisted reproduction, pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome - Ann Rheum Dis
  
  English (2019) EULAR recommendations for the management of antiphospholipid syndrome in adults - Ann Rheum Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
Antisynthetase syndrome
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Antley-Bixler syndrome
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2017) Cytochrome P450 Oxidoreductase Deficiency - GeneReviews
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
Aorta coarctation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2018) - AWMF
Aortic arch defects
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aortic arch interruption
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aortic malformation
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aorto-left ventricular tunnel
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aorto-ventricular tunnel
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
- Review article
  English (2007) - Orphanet J Rare Dis
APC-related attenuated familial adenomatous polyposis
- Article for general public
  Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Apert syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Español (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
  
  Italiano (2011) - Orphananesthesia
  
  Português (2011) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2019) Apert Syndrome - GeneReviews
  
  English (2020) - GeneReviews
- Disability factsheet
  Dansk (2018) - Sjaeldne Diagnoser
Aplastic anemia-intellectual disability-dwarfism syndrome
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical practice guidelines
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
Aquagenic palmoplantar keratoderma
- Clinical practice guidelines
  English (2022) ECFS standards of care on CFTR-related disorders: Updated diagnostic criteria - J Cyst Fibros
Arginine vasopressin deficiency
- Emergency guidelines
  Français (2017.pdf) Diabète insipide dorigine centrale - Orphanet Urgences
  
  Español (2017.pdf) Diabetes insípida central - Orphanet Urgences
Arginine vasopressin resistance
- Emergency guidelines
  Français (2017.pdf) Diabète insipide néphrogénique - Orphanet Urgences
  
  Español (2018.pdf) Diabetes insípida nefrogénica - Orphanet Urgences
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Argininemia
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2011.pdf) - EIMD
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
Argininosuccinic aciduria
- Article for general public
  Suomi (2011.pdf) - EIMD
  
  Français (2011.pdf) - EIMD
  
  Polski (2011.pdf) - EIMD
  
  Deutsch (2011.pdf) - EIMD
  
  اردو (2011.pdf) - EIMD
  
  English (2011.pdf) - EIMD
  
  Español (2011.pdf) - EIMD
  
  Nederlands (2011.pdf) - EIMD
  
  Türkçe (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2011.pdf) - EIMD
  
  Hrvatski (2011.pdf) - EIMD
  
  Italiano (2011.pdf) - EIMD
  
  Português (2011.pdf) - EIMD
- Emergency guidelines
  Français (2023.pdf) Déficits du cycle de lurée - Orphanet Urgences
  
  English (2012.pdf) - Brit Inher Metab Dis Group
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
  
  Português (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Déficits du cycle de lurée - PNDS
  
  Deutsch (2018) - AWMF
  
  English (2019) Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) - GeneReviews
Arnold-Chiari malformation type I
- Clinical practice guidelines
  Français (2021) Malformation de Chiari - PNDS
Aromatase deficiency
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Aromatic L-amino acid decarboxylase deficiency
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  English (2017) Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Aromatic L-Amino Acid Decarboxylase Deficiency - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Arterial duct anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Arterial tortuosity syndrome
- Clinical practice guidelines
  English (2023) HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN - Eur J Med Genet
  
  English (2024) Guidelines for the management of peripheral arterial and aortic diseases: Developed by the task force on the management of peripheral arterial and aortic diseases of the European Society of Cardiology (ESC) - Eur Heart J
- Clinical genetics review
  English (2023) Arterial Tortuosity Syndrome - GeneReviews
- Guidance for genetic testing
  English (2015) - Eur J Hum Genet
Arthrochalasia Ehlers-Danlos syndrome
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Syndrome dEhlers-Danlos Non Vasculaire (SED NV) - PNDS
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
  
  English (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s) - Orphanet J Rare Dis
  
  English (2020) The Ehlers-Danlos syndromes - Nat Rev Dis Primers
  
  English (2018) Ehlers-Danlos syndromes: state of the art on clinical practice guidelines - RMD Open
- Review article
  Français (2023) Le syndrome dEhlers Danlos : une maladie rare fréquemment suspectée - Bull Cancer
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Arthrogryposis multiplex congenita
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
Arthrogryposis multiplex congenita-whistling face syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
Arthrogryposis-anterior horn cell disease syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
Arthrogryposis-hyperkeratosis syndrome, lethal form
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
Arthrogryposis-renal dysfunction-cholestasis syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2011) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Asbestos intoxication
- Clinical practice guidelines
  Deutsch (2020) - AWMF
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Ascending aorta anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Aseptic abscess syndrome
- Review article
  English (2005.pdf) - Orphanet
Aspartylglucosaminuria
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Review article
  English (2016) Aspartylglycosaminuria: a review - Orphanet J Rare Dis
- Clinical genetics review
  English (2024) Aspartylglucosaminuria - GeneReviews
Aspergillosis
- Clinical practice guidelines
  English (2016) Practice Guidelines for the Diagnosis and Management of Aspergillosis: 2016 Update by the Infectious Diseases Society of America - Clin Infect Dis
Astley-Kendall dysplasia
- Article for general public
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
Astroblastoma
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Astrocytoma
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  Deutsch (2024) - AWMF
  
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Ataxia neuropathy spectrum
- Clinical genetics review
  English (2018) POLG-Related Disorders - GeneReviews
Ataxia with vitamin E deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2012) The autosomal recessive cerebellar ataxias - N Engl J Med
- Clinical genetics review
  English (2023) Ataxia with Vitamin E Deficiency - GeneReviews
Ataxia-deafness-intellectual disability syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Ataxia-hypogonadism-choroidal dystrophy syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  Français (2009.pdf) - Ann Endocrinol
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
  
  English (2021) PNPLA6 Disorders - GeneReviews
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Ataxia-oculomotor apraxia type 1
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2015) - GeneReviews
Ataxia-oculomotor apraxia type 4
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Ataxia-pancytopenia syndrome
- Emergency guidelines
  Français (2022.pdf) Aplasie médullaire - Orphanet Urgences
- Clinical genetics review
  English (2021) SAMD9L Ataxia-Pancytopenia Syndrome - GeneReviews
Ataxia-photosensitivity-short stature syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Ataxia-tapetoretinal degeneration syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Ataxia-telangiectasia
- Article for general public
  Français (2016.pdf) - Orphanet
  
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2017) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Emergency guidelines
  Français (2015.pdf) Ataxie-télangiectasie (A-T) - Orphanet Urgences
  
  Español (2018.pdf) Ataxia-telangiectasia (A-T) - Orphanet Urgences
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2016) Ataxia telangiectasia: a review - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Ataxia-Telangiectasia - GeneReviews
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Ataxia-telangiectasia variant
- Review article
  English (2016) Ataxia telangiectasia: a review - Orphanet J Rare Dis
Ataxia-telangiectasia-like disorder
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Atelosteogenesis type I
- Clinical genetics review
  English (2020) - GeneReviews
Atelosteogenesis type II
- Clinical genetics review
  English (2023) SLC26A2-Related Atelosteogenesis - GeneReviews
Atelosteogenesis type III
- Clinical genetics review
  English (2020) - GeneReviews
Athyreosis
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Atresia of urethra
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2022) Definition, diagnosis and management of fetal lower urinary tract obstruction: consensus of the ERKNet CAKUT-Obstructive Uropathy Work Group - Nat Rev Urol
Atrial appendage anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Atrial septal aneurysm
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Atrial septal defect, coronary sinus type
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2019) - AWMF
Atrial septal defect, ostium primum type
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2019) - AWMF
Atrial septal defect, ostium secundum type
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2019) - AWMF
Atrial septal defect, sinus venosus type
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2019) - AWMF
Atrioventricular septal defect
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Français (2021) Prise en charge des patients ayant un canal atrioventriculaire - PNDS
Atrioventricular valve anomaly
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Attenuated Chédiak-Higashi syndrome
- Clinical genetics review
  English (2018) Chediak-Higashi Syndrome - GeneReviews
Attenuated familial adenomatous polyposis
- Article for general public
  Deutsch (2018.pdf) - Familienhilfe Polyposis Coli e.V
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
ATTRV122I amyloidosis
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Neuropathie amyloïde héréditaire à transthyrétine (NAH-TTR) - PNDS
  
  Français (2021) Amylose cardiaque - PNDS
  
  English (2021) Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases - Eur Heart J
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
ATTRV30M amyloidosis
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Neuropathie amyloïde héréditaire à transthyrétine (NAH-TTR) - PNDS
  
  Français (2021) Amylose cardiaque - PNDS
  
  English (2013) Guideline of transthyretin-related hereditary amyloidosis for clinicians - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Atypical autism
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Atypical Gaucher disease due to saposin C deficiency
- Clinical practice guidelines
  Français (2022) Maladie de Gaucher - PNDS
Atypical glycine encephalopathy
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical genetics review
  English (2019) Nonketotic Hyperglycinemia - GeneReviews
  
  English (2018) - GeneReviews
Atypical hemolytic uremic syndrome
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Microangiopathies thrombotiques - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Français (2021) Syndrome Hémolytique et Urémique (SHU) - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2017) 'Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2016) An international consensus approach to the management of atypical hemolytic uremic syndrome in children - Pediatr Nephrol
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Atypical hemolytic uremic syndrome with anti-factor H antibodies
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2017) 'Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2016) An international consensus approach to the management of atypical hemolytic uremic syndrome in children - Pediatr Nephrol
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) - GeneReviews
Atypical hemolytic uremic syndrome with complement gene abnormality
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
  
  English (2017) 'Atypical hemolytic uremic syndrome and C3 glomerulopathy: conclusions from a ''Kidney Disease: Improving Global Outcomes'' (KDIGO) Controversies Conference' - Kidney Int
  
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
  
  English (2016) An international consensus approach to the management of atypical hemolytic uremic syndrome in children - Pediatr Nephrol
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2016) - GeneReviews
Atypical juvenile parkinsonism
- Clinical genetics review
  English (2021) DNAJC6 Parkinson Disease - GeneReviews
Atypical pantothenate kinase-associated neurodegeneration
- Article for general public
  Deutsch (2017.pdf) - ACHSE
  
  Svenska (2012) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  Français (2022) Neurodégénérescences avec accumulation intracérébrale de fer (Neurodegeneration with Brain Iron Accumulation ou NBIA) - PNDS
  
  English (2017) Consensus clinical management guideline for pantothenate kinase associated neurodegeneration (PKAN) - Mol Genet Metab
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Neurodegeneration with Brain Iron Accumulation Disorders Overview - GeneReviews
  
  English (2017) Pantothenate Kinase-Associated Neurodegeneration - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Atypical papilloma of choroid plexus
- Clinical practice guidelines
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Atypical progressive supranuclear palsy syndrome
- Clinical practice guidelines
  Français (2022) Paralysie Supranucléaire Progressive et Syndrome Corticobasal - PNDS
Atypical Rett syndrome
- Emergency guidelines
  Français (2020.pdf) Syndrome de Rett - Orphanet Urgences
  
  Español (2023.pdf) Síndrome de Rett - Orphanet Urgences
- Clinical practice guidelines
  Français (2017) Syndrome de Rett et apparentés - PNDS
  
  Français (2017) Syndrome de Rett et apparentés - PNDS
- Clinical genetics review
  English (2019) - GeneReviews
- Diagnostic criteria
  English (2010) Rett syndrome: revised diagnostic criteria and nomenclature - Ann Neurol
- Disability factsheet
  Français (2018.pdf) - Orphanet
Atypical teratoid rhabdoid tumor
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2021) Soft tissue and visceral sarcomas: ESMO-EURACAN-GENTURIS Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2018) Soft tissue and visceral sarcomas: ESMO-EURACAN Clinical Practice Guidelines for diagnosis, treatment and follow-up - Ann Oncol
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
- Review article
  English (2017) - PDQ Cancer Inf Sum
Atypical Timothy syndrome
- Article for general public
  Русский (2021) CACNA1C Timothy syndrome - Unique
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical genetics review
  English (2018) Long QT Syndrome - GeneReviews
Audiogenic seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
Auditory neuropathy-optic atrophy syndrome
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
Autoimmune hemolytic anemia
- Article for general public
  Français (2009.pdf) - Orphanet
- Emergency guidelines
  Français (2015.pdf) Anémie hémolytique auto-immune - Orphanet Urgences
  
  Español (2017.pdf) Anemia hemolítica autoinmune - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
Autoimmune hemolytic anemia, cold type
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
Autoimmune hemolytic anemia, warm type
- Article for general public
  Français (2009.pdf) - Orphanet
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2017) Anémie Hémolytique Auto-Immune de l'enfant et de l'adulte - PNDS
- Review article
  Français (2021) How I treat warm autoimmune hemolytic anemia - Blood
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autoimmune hepatitis
- Clinical practice guidelines
  Français (2021) Hépatite Auto-Immunes (HAI) - PNDS
  
  Deutsch (2024) - AWMF
  
  English (2015) EASL Clinical Practice Guidelines: Autoimmune hepatitis - J Hepatol
  
  English (2019.pdf) Diagnosis and Management of Paediatric Autoimmune Hepatitis (AIH) - ESPGHAN
  
  English (2018) Diagnosis and Management of Pediatric Autoimmune Liver Disease: ESPGHAN Hepatology Committee Position Statement - J Pediatr Gastroenterol Nutr
  
  English (2020) Second-line and third-line therapy for autoimmune hepatitis: A position statement from the European Reference Network on Hepatological Diseases and the International Autoimmune Hepatitis Group - J Hepatol
- Review article
  English (2017) Autoimmune hepatitis: current challenges and future prospects - Clin Exp Gastroenterol
Autoimmune hepatitis type 1
- Clinical practice guidelines
  Français (2021) Hépatite Auto-Immunes (HAI) - PNDS
  
  English (2015) EASL Clinical Practice Guidelines: Autoimmune hepatitis - J Hepatol
  
  English (2019.pdf) Diagnosis and Management of Paediatric Autoimmune Hepatitis (AIH) - ESPGHAN
  
  English (2020) Second-line and third-line therapy for autoimmune hepatitis: A position statement from the European Reference Network on Hepatological Diseases and the International Autoimmune Hepatitis Group - J Hepatol
  
  English (2018) Diagnosis and Management of Pediatric Autoimmune Liver Disease: ESPGHAN Hepatology Committee Position Statement - J Pediatr Gastroenterol Nutr
Autoimmune hepatitis type 2
- Clinical practice guidelines
  Français (2021) Hépatite Auto-Immunes (HAI) - PNDS
  
  English (2015) EASL Clinical Practice Guidelines: Autoimmune hepatitis - J Hepatol
  
  English (2019.pdf) Diagnosis and Management of Paediatric Autoimmune Hepatitis (AIH) - ESPGHAN
  
  English (2020) Second-line and third-line therapy for autoimmune hepatitis: A position statement from the European Reference Network on Hepatological Diseases and the International Autoimmune Hepatitis Group - J Hepatol
  
  English (2018) Diagnosis and Management of Pediatric Autoimmune Liver Disease: ESPGHAN Hepatology Committee Position Statement - J Pediatr Gastroenterol Nutr
Autoimmune hypoparathyroidism
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2017) Hypoparathyroïdie - PNDS
  
  English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol
  
  English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol
Autoimmune interstitial lung disease-arthritis syndrome
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Autoimmune lymphoproliferative syndrome
- Article for general public
  Deutsch (2009.pdf) - Centrum für Chronische Immundefizienz
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Clinical genetics review
  English (2017) - GeneReviews
- Diagnostic criteria
  English (2010) Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop - Blood
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autoimmune pancreatitis
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2014) - Orphanet J Rare Dis
- Diagnostic criteria
  English (2014) IgG4- related disease: an orphan disease with many faces - Orphanet J Rare Dis
Autoimmune pancreatitis type 1
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2016) - Socialstyrelsen
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2024) Identification of red flags for IgG4-related disease: an international European Reference Network for Rare Connective Tissue Diseases framework - Lancet Rheumatol
- Review article
  English (2011) - Orphanet J Rare Dis
- Diagnostic criteria
  English (2014) IgG4- related disease: an orphan disease with many faces - Orphanet J Rare Dis
Autoimmune pancreatitis type 2
- Article for general public
  Français (2014) - SNFMI
  
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Review article
  English (2014) - Orphanet J Rare Dis
- Diagnostic criteria
  English (2014) IgG4- related disease: an orphan disease with many faces - Orphanet J Rare Dis
Autoimmune polyendocrinopathy
- Emergency guidelines
  Français (2022.pdf) Polyendocrinopathie auto-immune de type 1 - Orphanet Urgences
  
  Polski (2022.pdf) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 - Orphanet Urgences
  
  Deutsch (2014.pdf) Autoimmun-Polyendokrinopathie Typ 1 - Orphanet Urgences
  
  English (2010.pdf) Type 1 autoimmune polyendocrinopathy - Orphanet Urgences
  
  Español (2010.pdf) Poliendocrinopatía autoinmune de tipo 1 - Orphanet Urgences
  
  Português (2010.pdf) Poliendocrinopatia autoimune de tipo 1 - Orphanet Urgences
Autoimmune polyendocrinopathy type 1
- Article for general public
  Deutsch (2010.pdf) - Centrum für Chronische Immundefizienz
  
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Polyendocrinopathie auto-immune de type 1 - Orphanet Urgences
  
  Polski (2010.pdf) Autoimmunologiczny zespol niedoczynnosci wielogruczolowej typu 1 - Orphanet Urgences
  
  Deutsch (2014.pdf) Autoimmun-Polyendokrinopathie Typ 1 - Orphanet Urgences
  
  English (2010.pdf) Type 1 autoimmune polyendocrinopathy - Orphanet Urgences
  
  Español (2010.pdf) Poliendocrinopatía autoinmune de tipo 1 - Orphanet Urgences
  
  Italiano (2012.pdf) Poliendocrinopatia autoimmune tipo 1 - Orphanet Urgences
  
  Português (2010.pdf) Poliendocrinopatia autoimune de tipo 1 - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2017) Hypoparathyroïdie - PNDS
  
  English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol
  
  English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol
  
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autoimmune polyendocrinopathy type 2
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autoimmune pulmonary alveolar proteinosis
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  English (2024) European Respiratory Society guidelines for the diagnosis and management of pulmonary alveolar proteinosis - Eur Respir J
- Review article
  English (2011) Pulmonary alveolar proteinosis - Eur Respir Rev
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Review article
  English (2013) - Orphanet J Rare Dis
Autoinflammatory syndrome
- Review article
  English (2013) - Orphanet J Rare Dis
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
  
  English (2015) European S1 guideline for the treatment of hidradenitis suppurativa/acne inversa - J Eur Acad Dermatol Venereol
  
  English (2019) Hidradenitis suppurativa/acne inversa: a practical framework for treatment optimization - systematic review and recommendations from the HS ALLIANCE working group - J Eur Acad Dermatol Venereol
  
  English (2019) Hidradenitis suppurativa in a prepubertal case series: a call for specific guidelines - J Eur Acad Dermatol Venereol
Autoinflammatory syndrome with immune deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
- Review article
  English (2013) - Orphanet J Rare Dis
Autosomal dominant adult-onset proximal spinal muscular atrophy
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Autosomal dominant Alport syndrome
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Español (2020.pdf) Síndrome de Alport - AIRG-España
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Italiano (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2013) Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy - J Am Soc Nephrol
  
  English (2013) Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative - Pediatr Nephrol
  
  English (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN - Nephrol Dial Transplant
- Clinical genetics review
  English (2019) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autosomal dominant aplasia and myelodysplasia
- Clinical practice guidelines
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
Autosomal dominant brachyolmia
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical genetics review
  English (2020) - GeneReviews
Autosomal dominant centronuclear myopathy
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Review article
  English (2008) - Orphanet J Rare Dis
Autosomal dominant cerebellar ataxia
- Article for general public
  Français (2013.pdf) - Orphanet
  
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cerebellar ataxia type I
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2011) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cerebellar ataxia type II
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cerebellar ataxia type III
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2013) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cerebellar ataxia type IV
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2023) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Svenska (2021) - Socialstyrelsen
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2019) DNMT1-Related Dementia, Deafness, and Sensory Neuropathy - GeneReviews
  
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2013) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant Charcot-Marie-Tooth disease type 2B
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2C
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2D
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2011) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2I
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant Charcot-Marie-Tooth disease type 2J
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2L
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2O
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2024) DYNC1H1-Related Disorders - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2U
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2V
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2016) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2022) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant childhood-onset proximal spinal muscular atrophy
- Clinical genetics review
  English (2024) DYNC1H1-Related Disorders - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Autosomal dominant complex spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant congenital benign spinal muscular atrophy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2020) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant cutis laxa
- Clinical genetics review
  English (2023) FBLN5-Related Cutis Laxa - GeneReviews
  
  English (2022) - GeneReviews
Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant distal hereditary motor neuropathy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant distal renal tubular acidosis
- Clinical practice guidelines
  English (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points - Nephrol Dial Transplant
- Review article
  English (2012) Genetic causes and mechanisms of distal renal tubular acidosis - Nephrol Dial Transplant
- Clinical genetics review
  English (2019) Hereditary Distal Renal Tubular Acidosis - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Autosomal dominant dopa-responsive dystonia
- Clinical practice guidelines
  English (2020) Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies - Orphanet J Rare Dis
  
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
- Clinical genetics review
  English (2019) - GeneReviews
  
  English (2017) Hereditary Dystonia Overview - GeneReviews
Autosomal dominant Emery-Dreifuss muscular dystrophy
- Article for general public
  Français (2009) - AFM-Telethon
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Laminopathies avec présentation cardiaque - PNDS
- Clinical genetics review
  English (2019) Emery-Dreifuss Muscular Dystrophy - GeneReviews
Autosomal dominant epidermolytic ichthyosis
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant focal dystonia, DYT25 type
- Clinical genetics review
  English (2019) - GeneReviews
Autosomal dominant generalized dystrophic epidermolysis bullosa
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
- Article for general public
  Français (2012.pdf) - Orphanet
  
  English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
  
  Svenska (2024) - Socialstyrelsen
  
  Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2022) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
- Article for general public
  Français (2012.pdf) - Orphanet
  
  English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
  
  Svenska (2024) - Socialstyrelsen
  
  Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2022) Epidermolysis Bullosa Simplex - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal dominant hereditary axonal motor and sensory neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) STAT3 Hyper IgE Syndrome - GeneReviews
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Autosomal dominant hypocalcemia
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2017) Hypoparathyroïdie - PNDS
  
  English (2019) Standards of care for hypoparathyroidism in adults: a Canadian and International Consensus - Eur J Endocrinol
  
  English (2015) European Society of Endocrinology Clinical Guideline: Treatment of chronic hypoparathyroidism in adults - Eur J Endocrinol
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Autosomal dominant hypohidrotic ectodermal dysplasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Dysplasie Ectodermique Anhidrotique - PNDS
- Clinical genetics review
  English (2022) - GeneReviews
Autosomal dominant hypophosphatemic rickets
- Clinical practice guidelines
  Français (2018) Hypophosphatémies héréditaires à FGF23 élevé (dont hypophosphatémies liées à lx) - PNDS
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
- Clinical genetics review
  English (2022) HIST1H1E Syndrome - GeneReviews
Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2015) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2023) Charcot-Marie-Tooth Hereditary Neuropathy Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant Kenny-Caffey syndrome
- Clinical genetics review
  English (2023) FAM111A-Related Skeletal Dysplasias - GeneReviews
Autosomal dominant limb-girdle muscular dystrophy
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant macrothrombocytopenia
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autosomal dominant mitochondrial myopathy with exercise intolerance
- Clinical practice guidelines
  English (2017) Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society - Genet Med
  
  English (2017) International Workshop:: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy - Neuromuscul Disord
- Clinical genetics review
  English (2021) CHCHD10-Related Disorders - GeneReviews
Autosomal dominant non-syndromic intellectual disability
- Article for general public
  English (2020.pdf) ZMYND11 related syndromic intellectual disability - Unique
  
  Türkçe (2022.pdf) ZMYND11 related syndromic intellectual disability - Unique
  
  ქართული (2018.pdf) Alazami syndrome - Unique
  
  Русский (2020.pdf) ZMYND11 related syndromic intellectual disability - Unique
  
  Русский (2021.pdf) CLTC-related ID - Unique
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2021) GRIN1-Related Neurodevelopmental Disorder - GeneReviews
  
  English (2023) SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews
  
  English (2019) SYNGAP1-Related Intellectual Disability - GeneReviews
  
  English (2023) TRPM3-Related Neurodevelopmental Disorder - GeneReviews
  
  English (2022) SETD1B-Related Neurodevelopmental Disorder - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autosomal dominant optic atrophy
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
- Review article
  English (2012) - Orphanet J Rare Dis
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Autosomal dominant optic atrophy and cataract
- Review article
  English (2012) - Orphanet J Rare Dis
Autosomal dominant optic atrophy and peripheral neuropathy
- Review article
  English (2012) - Orphanet J Rare Dis
Autosomal dominant optic atrophy plus syndrome
- Clinical practice guidelines
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
  
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
  
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
- Review article
  English (2012) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant optic atrophy, classic form
- Clinical practice guidelines
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
  
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
  
  Français (2021) Atrophie Optique Dominante OPA1 - PNDS
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2015) Optic Atrophy Type 1 - GeneReviews
Autosomal dominant osteopetrosis type 1
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Autosomal dominant otospondylomegaepiphyseal dysplasia
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
- Clinical genetics review
  English (2023) Stickler Syndrome - GeneReviews
Autosomal dominant polycystic kidney disease
- Article for general public
  Français (2017.pdf) La polikystose rénale dominante autosomique - AIRG France
  
  Español (2017.pdf) La poliquistosis renal autosomica dominante - AIRG-España
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2015) Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference - Kidney Int
  
  English (2019) International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people - Nat Rev Nephrol
  
  English (2022) An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International - Nephrol Dial Transplant
- Review article
  English (2019) Novel Treatments for Polycystic Kidney Disease - Transl Sci Rare Dis
- Clinical genetics review
  English (2022) Polycystic Kidney Disease, Autosomal Dominant - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Autosomal dominant popliteal pterygium syndrome
- Clinical genetics review
  English (2021) - GeneReviews
Autosomal dominant primary hypomagnesemia with hypocalciuria
- Clinical practice guidelines
  Français (2020) Maladie liée à HNF-1? - PNDS
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Autosomal dominant progressive external ophthalmoplegia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2021) RRM2B Mitochondrial DNA Maintenance Defects - GeneReviews
  
  English (2018) POLG-Related Disorders - GeneReviews
Autosomal dominant proximal renal tubular acidosis
- Review article
  English (2012) Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies - Nephrol Dial Transplant
Autosomal dominant proximal spinal muscular atrophy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2018.pdf) - ANPGM
Autosomal dominant pure spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant Robinow syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Autosomal dominant severe congenital neutropenia
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Emergency guidelines
  Français (2009.pdf) Neutropénie constitutionnelle sévère - Orphanet Urgences
  
  Deutsch (2009.pdf) Schwere konstitutionelle Neutropenie - Orphanet Urgences
  
  Español (2009.pdf) Neutropenia constitucional grave - Orphanet Urgences
  
  Italiano (2012.pdf) Neutropenia costituzionale grave - Orphanet Urgences
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
Autosomal dominant slowed nerve conduction velocity
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant spastic ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal dominant spastic ataxia type 1
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal dominant spastic paraplegia type 10
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 12
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 13
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 17
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2018) BSCL2-Related Neurologic Disorders / Seipinopathy - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal dominant spastic paraplegia type 19
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 29
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 3
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2020) Spastic Paraplegia 3A - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 31
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 36
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 37
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 38
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 4
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2019) Spastic Paraplegia 4 - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 41
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 42
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 6
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 73
- Article for general public
  Français (2015.pdf) - Fondation Groupama
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 8
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2020) Spastic Paraplegia 8 - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 80
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
Autosomal dominant spastic paraplegia type 9A
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant spastic paraplegia type 9B
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal dominant thrombocytopenia with platelet secretion defect
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Autosomal dominant tubulointerstitial kidney disease
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2015) Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management--A KDIGO consensus report - Kidney Int
- Clinical genetics review
  English (2021) Autosomal Dominant Tubulointerstitial Kidney Disease MUC1 - GeneReviews
Autosomal erythropoietic protoporphyria
- Article for general public
  Svenska (2023) Erytropoetisk protoporfyri - Socialstyrelsen
- Emergency guidelines
  Français (2016.pdf) Porphyries cutanées tardives - Orphanet Urgences
  
  Polski (2016.pdf) Porfirie skorne - Orphanet Urgences
  
  English (2007.pdf) Cutaneous porphyrias - Orphanet Urgences
  
  Español (2007.pdf) Porfirias cutáneas - Orphanet Urgences
  
  Italiano (2007.pdf) Porfirie cutanee - Orphanet Urgences
  
  Português (2007.pdf) Porfiria cutâneas - Orphanet Urgences
- Anesthesia guidelines
  English (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2017) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal ichthyosis syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  Deutsch (2016) - AWMF
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Autosomal ichthyosis syndrome with fatal disease course
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Autosomal ichthyosis syndrome with other associated signs
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Autosomal ichthyosis syndrome with prominent hair abnormalities
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Autosomal ichthyosis syndrome with prominent neurologic signs
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Autosomal recessive Alport syndrome
- Article for general public
  Français (2010.pdf) - Orphanet
  
  Español (2020.pdf) Síndrome de Alport - AIRG-España
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
  
  Italiano (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  English (2013) Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy - J Am Soc Nephrol
  
  English (2013) Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative - Pediatr Nephrol
  
  English (2024) Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN - Nephrol Dial Transplant
- Clinical genetics review
  English (2019) Alport Syndrome - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autosomal recessive ataxia due to PEX10 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive ataxia due to PEX16 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive ataxia due to PEX2 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive ataxia due to ubiquinone deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Primary Coenzyme Q10 Deficiency Overview - GeneReviews
Autosomal recessive ataxia, Beauce type
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2018) SYNE1 Deficiency - GeneReviews
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive axonal hereditary motor and sensory neuropathy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive axonal neuropathy with neuromyotonia
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive bestrophinopathy
- Guidance for genetic testing
  English (2012) - Eur J Hum Genet
Autosomal recessive centronuclear myopathy
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Review article
  English (2008) - Orphanet J Rare Dis
Autosomal recessive cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Review article
  English (2006) - Orphanet J Rare Dis
Autosomal recessive cerebellar ataxia due to a DNA repair defect
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive cerebellar ataxia with late-onset spasticity
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2019) VPS13D Movement Disorder - GeneReviews
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive cerebelloparenchymal disorder type 3
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive Charcot-Marie-Tooth disease type 2X
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) GDAP1-Related Hereditary Motor and Sensory Neuropathy - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive complex spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive congenital cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive congenital ichthyosis
- Article for general public
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
  
  English (2023) Autosomal Recessive Congenital Ichthyosis - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive cutis laxa type 1
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2023) EFEMP2-Related Cutis Laxa - GeneReviews
  
  English (2023) FBLN5-Related Cutis Laxa - GeneReviews
Autosomal recessive cutis laxa type 2
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
  
  English (2023) ATP6V0A2-Related Cutis Laxa - GeneReviews
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal recessive cutis laxa type 2, classic type
- Clinical genetics review
  English (2023) ATP6V0A2-Related Cutis Laxa - GeneReviews
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal recessive cutis laxa type 2A
- Review article
  English (2021) Review of clinical and molecular variability in autosomal recessive cutis laxa 2A - Am J Med Genet
- Clinical genetics review
  English (2023) ATP6V0A2-Related Cutis Laxa - GeneReviews
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal recessive cutis laxa type 2B
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal recessive degenerative and progressive cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive distal hereditary motor neuropathy
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive distal osteolysis syndrome
- Article for general public
  English (2015.pdf) KIF11 Associated Disorder - Unique
  
  Русский (2015.pdf) KIF11 Associated Disorder - Unique
  
  Русский (2015.pdf) KIF11 Associated Disorder - Unique
Autosomal recessive distal renal tubular acidosis
- Clinical practice guidelines
  English (2021) Distal renal tubular acidosis: ERKNet/ESPN clinical practice points - Nephrol Dial Transplant
- Review article
  English (2012) Genetic causes and mechanisms of distal renal tubular acidosis - Nephrol Dial Transplant
- Clinical genetics review
  English (2019) Hereditary Distal Renal Tubular Acidosis - GeneReviews
Autosomal recessive dopa-responsive dystonia
- Clinical practice guidelines
  English (2011) EFNS guidelines on diagnosis and treatment of primary dystonias - Eur J Neurol
- Review article
  English (2011) Primary dystonia and dystonia-plus syndromes: clinical characteristics, diagnosis, and pathogenesis - Lancet Neurol
- Clinical genetics review
  English (2017) - GeneReviews
Autosomal recessive Emery-Dreifuss muscular dystrophy
- Article for general public
  Français (2009) - AFM-Telethon
  
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Laminopathies avec présentation cardiaque - PNDS
- Clinical genetics review
  English (2019) Emery-Dreifuss Muscular Dystrophy - GeneReviews
Autosomal recessive epidermolytic ichthyosis
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
  
  English (2018) Management of congenital ichthyoses: European guidelines of care, part one - Br J Dermatol
  
  English (2019) Management of congenital ichthyoses: European guidelines of care, part two - Br J Dermatol
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Clinical genetics review
  English (2018) Dystrophic Epidermolysis Bullosa - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal recessive generalized epidermolysis bullosa simplex
- Article for general public
  Français (2012.pdf) - Orphanet
  
  English (2022.pdf) Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers - Bambino Gesù Childrens Hospital
  
  Svenska (2024) - Socialstyrelsen
  
  Italiano (2022.pdf) Gestione dei bambini con Epidermolisi Bollosa: Educazione terapeutica - Bambino Gesù Childrens Hospital
- Emergency guidelines
  Français (2012.pdf) Epidermolyses bulleuses héréditaires (EBH) - Orphanet Urgences
- Clinical practice guidelines
  Français (2015) Épidermolyses bulleuses héréditaires - PNDS
  
  English (2019.pdf) Preventative nutritional care guideline: Constipation management for children and adults with epidermolysis bullosa (EB) - Debra International
  
  English (2012) Oral health care for patients with epidermolysis bullosa--best clinical practice guidelines - Int J Paediatr Dent
  
  English (2014) Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa - Orphanet J Rare Dis
  
  English (2014) Pain care for patients with epidermolysis bullosa: best care practice guidelines - BMC Med
  
  English (2016) Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines - Br J Dermatol
  
  English (2019) Occupational therapy for epidermolysis bullosa: clinical practice guidelines - Orphanet J Rare Dis
  
  English (2019) Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines - Orphanet J Rare Dis
  
  English (2020) Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa - Br J Dermatol
  
  English (2020) Foot care in epidermolysis bullosa: evidence-based guideline - Br J Dermatol
  
  English (2019.pdf) Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams - Debra International
  
  English (2020) Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases - Orphanet J Rare Dis
  
  English (2017.pdf) Skin and wound care in Epidermolysis bullosa - Wounds International
  
  Español (2017.pdf) - Wounds International
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Review article
  English (2011) - Orphanet J Rare Dis
Autosomal recessive hypohidrotic ectodermal dysplasia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical practice guidelines
  Français (2019) Dysplasie Ectodermique Anhidrotique - PNDS
  
  English (2011) An official ATS/ERS/JRS/ALAT statement: idiopathic pulmonary fibrosis: evidence-based guidelines for diagnosis and management - Am J Respir Crit Care Med
- Clinical genetics review
  English (2022) - GeneReviews
Autosomal recessive hypophosphatemic rickets
- Diagnostic Keys
  Français (2024) Fracture enfant avant l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture enfant après l'acquisition de la marche - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez l'homme - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme non ménopausée - Les clés du diagnostic
  
  Français (2024) Fracture de fragilité chez la femme ménopausée - Les clés du diagnostic
Autosomal recessive infantile hypercalcemia
- Clinical practice guidelines
  Français (2021) Lithiase urinaire de lenfant - PNDS
Autosomal recessive intermediate Charcot-Marie-Tooth disease
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2017) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive isolated optic atrophy
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive limb-girdle muscular dystrophy
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Myopathies reliées au collagène VI - PNDS
  
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive limb-girdle muscular dystrophy, type 28
- Clinical practice guidelines
  English (2014) Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
Autosomal recessive lower motor neuron disease with childhood onset
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive malignant osteopetrosis
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Autosomal recessive metabolic cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive multiple pterygium syndrome
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
Autosomal recessive myogenic arthrogryposis multiplex congenita
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2019) - Orphananesthesia
  
  English (2019) - Orphananesthesia
  
  Español (2018) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  Français (2021) Arthrogryposes multiples congénitales - PNDS
  
  English (2015) Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine - Neurology
- Clinical genetics review
  English (2012) - GeneReviews
Autosomal recessive non-syndromic intellectual disability
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Autosomal recessive optic atrophy, OPA7 type
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
Autosomal recessive polycystic kidney disease
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Deutsch (2020) Nierenzysten und zystische Nierenerkrankungen bei Kindern - AWMF
  
  English (2014) Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference - J Pediatr
- Clinical genetics review
  English (2019) Polycystic Kidney Disease, Autosomal Recessive - GeneReviews
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2020) European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management - J Clin Immunol
Autosomal recessive primary microcephaly
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Microcéphalies Primitives ASPM, WDR62 et CDK5RAP2 - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) WDR62 Primary Microcephaly - GeneReviews
  
  English (2020) ASPM Primary Microcephaly - GeneReviews
Autosomal recessive progressive external ophthalmoplegia
- Article for general public
  Svenska (2016) - Socialstyrelsen
- Clinical genetics review
  English (2018) POLG-Related Disorders - GeneReviews
Autosomal recessive proximal renal tubular acidosis
- Review article
  English (2012) Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies - Nephrol Dial Transplant
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Autosomal recessive pure spastic paraplegia
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive severe congenital neutropenia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Autosomal recessive sideroblastic anemia
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Autosomal recessive spastic ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2020) ARSACS - GeneReviews
Autosomal recessive spastic ataxia with leukoencephalopathy
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  Deutsch (2022) - AWMF
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Autosomal recessive spastic paraplegia type 11
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2019) Spastic Paraplegia 11 - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 14
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 15
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2021) Spastic Paraplegia 15 - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 20
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
  
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 21
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 23
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 24
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 25
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 26
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 27
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 28
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 32
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 35
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2018) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 39
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2021) PNPLA6 Disorders - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 43
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 44
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 45
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 46
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 48
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 53
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 54
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 55
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive spastic paraplegia type 56
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 57
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive spastic paraplegia type 59
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 5A
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 60
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 61
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 62
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 63
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Guidance for genetic testing
  English (2018.pdf) - Eur J Hum Genet
Autosomal recessive spastic paraplegia type 64
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2023) ENTPD1-Related Neurodevelopmental Disorder - GeneReviews
  
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 66
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 67
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 69
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 70
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 71
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 74
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Autosomal recessive spastic paraplegia type 75
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 76
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spastic paraplegia type 77
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2019) FARS2 Deficiency - GeneReviews
  
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
Autosomal recessive spastic paraplegia type 83
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
Autosomal recessive spastic paraplegia type 84
- Clinical genetics review
  English (2022) PI4KA-Related Disorder - GeneReviews
Autosomal recessive spastic paraplegia type 9B
- Article for general public
  Français (2015.pdf) - Fondation Groupama
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal recessive spondylocostal dysostosis
- Anesthesia guidelines
  English (2023) - Orphananesthesia
- Clinical genetics review
  English (2023) Spondylocostal Dysostosis, Autosomal Recessive - GeneReviews
Autosomal recessive Stickler syndrome
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2025) Le syndrome de Stickler - PNDS
- Clinical genetics review
  English (2023) Stickler Syndrome - GeneReviews
- Diagnostic criteria
  English (2005) Stickler syndrome: clinical characteristics and diagnostic criteria - Am J Med Genet
Autosomal recessive syndromic cerebellar ataxia
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Polski (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Deutsch (2021.pdf) Ataxie: Was ist das? - ERN-RND
  
  English (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Español (2021.pdf) Ataxia: ¿qué es eso? - ERN-RND
  
  Nederlands (2021.pdf) Ataxie? Wat is dat? - ERN-RND
  
  Čeština (2021.pdf) Ataxia: What's that? - ERN-RND
  
  Magyar (2021.pdf) Ataxia: mi az? - ERN-RND
  
  Italiano (2021.pdf) Atassia: cos'è? - ERN-RND
  
  Português (2021.pdf) Ataxia: O que é isso? - ERN-RND
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Deutsch (2019.pdf) Beste Klinische praxis fur das management von ataxien - ERN-RND
  
  English (2019.pdf) Management of the ataxias towards best clinical practice - ERN-RND
  
  Español (2019.pdf) Manejo clínico de ataxia, hacia una mejor práctica clínica - ERN-RND
Autosomal semi-dominant severe lipodystrophic laminopathy
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
- Guidance for genetic testing
  English (2016) - Eur J Hum Genet
Autosomal spastic paraplegia type 18
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal spastic paraplegia type 30
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  English (2018.pdf) KIF1A - Unique
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2018.pdf) KIF1A - Unique
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal spastic paraplegia type 58
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal spastic paraplegia type 72
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Paraparésies spastiques héréditaires pures - PNDS
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Autosomal systemic lupus erythematosus
- Article for general public
  Deutsch (2017.pdf) - ACHSE
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2024) Lupus Systémique de l'adulte et de l'enfant - PNDS
Autosomal thrombocytopenia with normal platelets
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Avian influenza
- Article for general public
  English (2021) - ELF
Axenfeld-Rieger syndrome
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  Français (2023) Le syndrome Axenfeld-Rieger - PNDS
  
  English (2022) Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency: an Endo-ERN clinical practice guideline - Eur J Endocrinol
- Clinical genetics review
  English (2009.pdf) - Eur J Hum Genet
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
AXIN2-related attenuated familial adenomatous polyposis
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Axonal hereditary motor and sensory neuropathy
- Clinical practice guidelines
  Français (2020) Neuropathies héréditaires sensitivomotrice de Charcot-Marie-Tooth - PNDS
  
  Deutsch (2021) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Aymé-Gripp syndrome
- Clinical genetics review
  English (2020) - GeneReviews
Azygos continuation of the inferior vena cava
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS

Knowledge on rare diseases and orphan drugs

Encyclopaedia

ALPHABETICAL LIST

ALPHABETICAL LIST

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