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X small rings syndrome
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked acrogigantism
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked 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
- Clinical genetics review
  English (2018) NR0B1-Related Adrenal Hypoplasia Congenita - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked adrenoleukodystrophy
- Article for general public
  Deutsch (2014.pdf) - ÄZQ
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Adrénoleucodystrophie - PNDS
  
  Français (2021) Adrénoleucodystrophie - PNDS
  
  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
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
X-linked agammaglobulinemia
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Türkçe (2007.pdf) - IPOPI
  
  Svenska (2019) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Emergency guidelines
  Français (2020.pdf) Déficits immunitaires humoraux chez ladulte - Orphanet Urgences
- Clinical genetics review
  English (2016) - GeneReviews
X-linked alpha-thalassemia-intellectual disability 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
- Review article
  English (2006) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
X-linked 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) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked Alport syndrome-diffuse leiomyomatosis
- Article for general public
  Español (2020.pdf) Síndrome de Alport - AIRG-España
- 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
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked central congenital hypothyroidism with late-onset testicular enlargement
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Español (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  English (2021) Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology - Thyroid
  
  English (2018) 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism - Eur Thyroid J
- Review article
  English (2013.pdf) - Rare Diseases
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked centronuclear myopathy
- Article for general public
  Svenska (2013) - Socialstyrelsen
- Review article
  English (2008) - Orphanet J Rare Dis
X-linked 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
X-linked cerebral adrenoleukodystrophy
- Article for general public
  Deutsch (2014.pdf) - ÄZQ
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Adrénoleucodystrophie - PNDS
  
  Français (2021) Adrénoleucodystrophie - PNDS
  
  Deutsch (2022) - AWMF
  
  English (2022) International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach - Neurology
  
  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
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
X-linked cerebral-cerebellar-coloboma syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
X-linked 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
X-linked Charcot-Marie-Tooth disease type 1
- 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
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
X-linked 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
X-linked Charcot-Marie-Tooth disease type 3
- 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
X-linked Charcot-Marie-Tooth disease type 4
- 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
X-linked Charcot-Marie-Tooth disease type 5
- 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
X-linked Charcot-Marie-Tooth disease type 6
- 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
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
X-linked 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
X-linked complicated corpus callosum dysgenesis
- Clinical genetics review
  English (2021) L1 Syndrome - GeneReviews
X-linked complicated spastic paraplegia type 1
- Clinical genetics review
  English (2021) - GeneReviews
X-linked corneal dermoid
- Review article
  English (2009) - Orphanet J Rare Dis
X-linked creatine transporter deficiency
- Clinical genetics review
  English (2022) Creatine Deficiency Disorders - GeneReviews
X-linked distal hereditary motor neuropathy
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
X-linked distal spinal muscular atrophy type 3
- 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 (2024) Maladie de Menkes et autres maladies du métabolisme du cuivre, hors maladie de Wilson - PNDS
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
X-linked dominant chondrodysplasia punctata
- Article for general public
  Svenska (2015) - Socialstyrelsen
  
  Svenska (2023) Chondrodysplasia punctata - Socialstyrelsen
- Clinical practice guidelines
  Français (2022) Chondrodysplasies ponctuées : déficit de la biosynthèse du cholestérol et déficit en arylsulfatase E. - 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
  
  English (2020) Chondrodysplasia Punctata 2, X-Linked - GeneReviews
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  Deutsch (2024) - AWMF
- Clinical genetics review
  English (2023) GATA1-Related Cytopenia - GeneReviews
X-linked dystonia-parkinsonism
- 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 (2018) - GeneReviews
  
  English (2017) Hereditary Dystonia Overview - GeneReviews
X-linked 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
X-linked 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 genetics review
  English (2019) - GeneReviews
X-linked endothelial corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
X-linked 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
  
  Português (2007.pdf) Porfiria cutâneas - Orphanet Urgences
- Clinical genetics review
  English (2019) - GeneReviews
X-linked hyper-IgM syndrome
- Article for general public
  Français (2007.pdf) - IPOPI
  
  Deutsch (2007.pdf) - IPOPI
  
  Ελληνικά (2007.pdf) - IPOPI
  
  English (2007.pdf) - IPOPI
  
  Eesti (2007.pdf) - IPOPI
  
  Español (2007.pdf) - IPOPI
  
  Svenska (2020) - Socialstyrelsen
  
  Русский (2007.pdf) - IPOPI
  
  Română (2007.pdf) - IPOPI
  
  العربية (2007.pdf) - IPOPI
  
  Português (2007.pdf) - IPOPI
- Clinical genetics review
  English (2020) - GeneReviews
X-linked 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
X-linked hypophosphatemia
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2018) Hypophosphatémies héréditaires à FGF23 élevé (dont hypophosphatémies liées à lx) - PNDS
  
  English (2025) Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia - Nat Rev Nephrol
  
  English (2019) Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia - Nat Rev Nephrol
  
  English (2020) Diagnosis, treatment-monitoring and follow-up of children and adolescents with X-linked hypophosphatemia (XLH) - Metabolism
  
  English (2020) Management of X-linked hypophosphatemia in adults - Metabolism
- Clinical genetics review
  English (2017) - 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
X-linked 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
X-linked immunoneurologic disorder
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
X-linked intellectual disability, Cilliers type
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked intellectual disability, Najm type
- Article for general public
  English (2022.pdf) CASK-related disorders - Unique
  
  Русский (2022.pdf) CASK-related disorders - Unique
- Clinical genetics review
  English (2013) - GeneReviews
X-linked intellectual disability, Snyder type
- Clinical genetics review
  English (2020) Snyder-Robinson Syndrome - GeneReviews
X-linked intellectual disability, Van Esch type
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked intellectual disability-ataxia-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
X-linked intellectual disability-cerebellar hypoplasia syndrome
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- Emergency guidelines
  Français (2018.pdf) Ichtyoses héréditaires - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Ichthyoses héréditaires - PNDS
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
X-linked intellectual disability-hypotonia-movement disorder syndrome
- Article for general public
  Français (2017.pdf) DDX3X Syndrome - Unique
  
  English (2020.pdf) DDX3X Syndrome - Unique
  
  English (2022.pdf) Síndrome DDX3X - Unique
  
  Nederlands (2016.pdf) DDX3X Syndrome - Unique
  
  Русский (2020.pdf) DDX3X Syndrome - Unique
  
  Português (2020.pdf) DDX3X sindrome Portugese - Unique
- Clinical genetics review
  English (2020) DDX3X-Related Neurodevelopmental Disorder - GeneReviews
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
X-linked intellectual disability-psychosis-macroorchidism syndrome
- Clinical genetics review
  English (2019) MECP2 Disorders - GeneReviews
X-linked lymphoproliferative disease
- Article for general public
  Deutsch (2009.pdf) - Centrum für Chronische Immundefizienz
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  Deutsch (2020) - Onkopedia
- Clinical genetics review
  English (2016) Lymphoproliferative Disease, X-Linked - GeneReviews
X-linked mandibulofacial dysostosis
- Clinical practice guidelines
  Français (2021) Microsomies craniofaciales - PNDS
  
  English (2020) European Guideline Craniofacial Microsomia - J Craniofac Surg
X-linked mendelian susceptibility to mycobacterial diseases
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
X-linked myopathy with excessive autophagy
- Clinical practice guidelines
  Français (2021) Myosite à inclusions sporadique - PNDS
X-linked non 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
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
X-linked non-syndromic intellectual disability
- Clinical practice guidelines
  Deutsch (2021) - AWMF
- Clinical genetics review
  English (2019) MECP2-Related Disorders - GeneReviews
  
  English (2023) RPS6KA3-Related Intellectual Disability - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
X-linked osteoporosis with fractures
- 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
X-linked 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
X-linked 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
X-linked recessive ocular albinism
- Article for general public
  Español (2018) - ALBA
  
  Svenska (2024) - Socialstyrelsen
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
- Clinical genetics review
  English (2015) - GeneReviews
  
  English (2023) Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
  
  English (2021) Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)an update - Eur J Hum Genet
X-linked reticulate pigmentary disorder
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  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
X-linked retinoschisis
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Review article
  English (2012) X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms - Prog Retin Eye Res
- Clinical genetics review
  English (2020) - GeneReviews
X-linked 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 (2016) - GeneReviews
X-linked severe syndromic thoracic aortic aneurysm and dissection
- Article for general public
  Français (2019.pdf) - Fondation Groupama
- 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
X-linked sideroblastic anemia
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
X-linked sideroblastic anemia and spinocerebellar 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
- Clinical genetics review
  English (2014) - GeneReviews
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
X-linked spastic paraplegia type 16
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
X-linked spastic paraplegia type 34
- 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
X-linked spinocerebellar ataxia 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
X-linked spinocerebellar ataxia 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
X-linked 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
- Clinical genetics review
  English (2016) - GeneReviews
- Guidance for genetic testing
  Français (2017.pdf) - ANPGM
Xeroderma pigmentosum
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2008.pdf) - Orphanet
  
  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
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Français (2019.pdf) Prise en charge des ataxies, vers une meilleure pratique clinique - ERN-RND
  
  Français (2021) Xeroderma Pigmentosum - PNDS
  
  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 (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Xeroderma pigmentosum variant
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Xeroderma Pigmentosum - GeneReviews
Xeroderma pigmentosum-Cockayne syndrome complex
- 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
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Español (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- 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 (2017) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) - GeneReviews
XMEN
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Guidance for genetic testing
  English (2014) - Eur J Hum Genet
Xp21 deletion syndrome
- Clinical practice guidelines
  English (2014) Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency - J Intern Med

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