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Saccular spinal dysraphism with a stalk to the dome
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Saethre-Chotzen syndrome
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2019) Saethre-Chotzen Syndrome - GeneReviews
Salivary gland type cancer of the breast
- Article for general public
  Français (2013) - INCa
Salla disease
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2020) - GeneReviews
SAMD9L-associated autoinflammatory syndrome
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  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
Sandhoff disease
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
- Clinical genetics review
  English (2022) Sandhoff Disease - GeneReviews
Sandhoff disease, adult form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
  
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2022) Sandhoff Disease - GeneReviews
Sandhoff disease, infantile form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
- Clinical genetics review
  English (2022) Sandhoff Disease - GeneReviews
Sandhoff disease, juvenile form
- Article for general public
  Svenska (2024) - Socialstyrelsen
- Emergency guidelines
  Français (2013.pdf) Gangliosidoses à GM2 - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Gangliosidoses à GM2 - PNDS
- Clinical genetics review
  English (2022) Sandhoff Disease - GeneReviews
Sanfilippo syndrome type A
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2010.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2019) Mucopolysaccharidosis Type III - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Sanfilippo syndrome type B
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2010.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2019) Mucopolysaccharidosis Type III - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Sanfilippo syndrome type C
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2010.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2019) Mucopolysaccharidosis Type III - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Sanfilippo syndrome type D
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2010.pdf) - Orphanet
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
  
  Italiano (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2019) Mucopolysaccharidosis Type III - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
SAPHO syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Deutsch (2017.pdf) - ACHSE
- Clinical practice guidelines
  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
- Review article
  English (2012) The SAPHO syndrome - Semin Arthritis Rheum
Sarcoidosis
- Article for general public
  Français (2014) - SNFMI
  
  Deutsch (2023.pdf) - ÄZQ
- Emergency guidelines
  Français (2020.pdf) Sarcoïdose - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2020) Diagnosis and Detection of Sarcoidosis. An Official American Thoracic Society Clinical Practice Guideline - Am J Respir Crit Care Med
  
  English (2021) ERS clinical practice guidelines on treatment of sarcoidosis - Eur Respir J
  
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Review article
  English (2007) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Diagnostic Keys
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2022) Arthrite - Les clés du diagnostic
Sarcoma of cervix uteri
- Article for general public
  Français (2011) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Sarcoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
SATB2-associated syndrome
- Clinical practice guidelines
  Français (2021) Syndrome associé au gène SATB2 (SAS) - PNDS
SATB2-associated syndrome due to a chromosomal rearrangement
- Article for general public
  English (2015.pdf) SATB2 Syndrome (Glass syndrome) - Unique
  
  ქართული (2019.pdf) SATB2 Syndrome (Glass syndrome) - Unique
  
  Русский (2022.pdf) SATB2 Syndrome (Glass syndrome) - Unique
- Clinical practice guidelines
  Français (2021) Syndrome associé au gène SATB2 (SAS) - PNDS
- Clinical genetics review
  English (2017) Disorders of GNAS Inactivation - GeneReviews
  
  English (2017) SATB2-Associated Syndrome - GeneReviews
SATB2-associated syndrome due to a pathogenic variant
- Clinical practice guidelines
  Français (2021) Syndrome associé au gène SATB2 (SAS) - PNDS
- Clinical genetics review
  English (2017) SATB2-Associated Syndrome - GeneReviews
Say-Barber-Miller syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Scapuloperoneal spinal muscular atrophy
- Clinical genetics review
  English (2020) TRPV4-Associated Disorders - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Schaaf-Yang syndrome
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2012) - Orphananesthesia
  
  English (2012) - Orphananesthesia
  
  Español (2020) - Orphananesthesia
  
  Čeština (2012) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome Prader Willi - PNDS
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2021) Schaaf-Yang Syndrome - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Scheie syndrome
- Article for general public
  Suomi (2013.pdf) - FPD RD unit
  
  Français (2009.pdf) - Orphanet
  
  Svenska (2018) - Socialstyrelsen
- Clinical practice guidelines
  Français (2016) Mucopolysaccharidoses (MPS) - PNDS
  
  Français (2025) Mucopolysaccharidoses (MPS) - PNDS
- Clinical genetics review
  English (2021) Mucopolysaccharidosis Type I - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Schimke immuno-osseous dysplasia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
- Clinical genetics review
  English (2023) Schimke Immunoosseous Dysplasia - GeneReviews
Schinzel-Giedion syndrome
- Clinical genetics review
  English (2024) Schinzel-Giedion Syndrome - GeneReviews
  
  English (2024) Schinzel-Giedion Syndrome - GeneReviews
Schistosomiasis
- Clinical practice guidelines
  Deutsch (2017) - AWMF
Schnitzler syndrome
- Article for general public
  Français (2007.pdf) - Orphanet
- Review article
  English (2010) - Orphanet J Rare Dis
Schnyder corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Schuurs-Hoeijmakers syndrome
- Article for general public
  Français (2020.pdf) Isochromosome 18p - Unique
  
  English (2016.pdf) PACS1 related syndrome - Unique
  
  Español (2018.pdf) Sindrome Relacionado Al Gen PACS1 - Unique
  
  Русский (2020) PACS1 related syndrome (Schuurs-Hoeijmakers syndrome) - Unique
- Clinical genetics review
  English (2020) PACS1 Neurodevelopmental Disorder - GeneReviews
Schwartz-Jampel syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Scimitar syndrome
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Scleroderma
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2007.pdf) - Orphanet
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Emergency guidelines
  Français (2025.pdf) Sclérodermie systémique - Orphanet Urgences
  
  Deutsch (2010.pdf) Systemische Sklerodermie - Orphanet Urgences
  
  Español (2017.pdf) Esclerodermia sistémica - Orphanet Urgences
  
  Italiano (2014.pdf) Sclerodermia sistemica - Orphanet Urgences
- Disability factsheet
  Français (2018.pdf) - Orphanet
Sclerosing cholangitis
- Clinical practice guidelines
  English (2022) EASL Clinical Practice Guidelines on sclerosing cholangitis - J Hepatol
Sclerosteosis
- Clinical genetics review
  English (2019) SOST-Related Sclerosing Bone Dysplasias - GeneReviews
Scott syndrome
- Clinical practice guidelines
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
Seckel syndrome
- Clinical genetics review
  English (2013) - GeneReviews
Secondary hemophagocytic lymphohistiocytosis
- Clinical practice guidelines
  English (2019) Recommendations for the management of hemophagocytic lymphohistiocytosis in adults - Blood
- Review article
  Deutsch (2020) - Onkopedia
Secondary hypereosinophilic syndrome
- Article for general public
  Français (2014) - SNFMI
- Diagnostic Keys
  Français (2024) Eosinophilie Hyperéosinophilie - Les clés du diagnostic
- Emergency guidelines
  Français (2018.pdf) Syndromes hyperéosinophiliques - Orphanet Urgences
- Clinical practice guidelines
  Français (2022) Hyperéosinophilies et Syndromes Hyperéosinophiliques - PNDS
  
  English (2015) An international consortium proposal of uniform response criteria for myelodysplastic/myeloproliferative neoplasms (MDS/MPN) in adults - Blood
- Review article
  Deutsch (2014) - Onkopedia
Secondary hypoparathyroidism due to impaired parathormon secretion
- 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
Secondary interstitial lung disease in childhood and adulthood
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
- 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
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
- 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
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
- 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
Secondary interstitial lung disease specific to childhood associated with a systemic disease
- 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
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
- 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
Secondary polyarteritis nodosa
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2014) - Socialstyrelsen
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Clinical practice guidelines
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  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
Secondary polycythemia
- Clinical practice guidelines
  English (2005) Guidelines for the diagnosis, investigation and management of polycythaemia/erythrocytosis - Br J Haematol
Secondary 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
Secondary pulmonary hemosiderosis
- Article for general public
  Français (2011.pdf) - Orphanet
- Clinical practice guidelines
  English (2022) European Respiratory Society guidelines on transbronchial lung cryobiopsy in the diagnosis of interstitial lung diseases - Eur Respir J
Secondary sclerosing cholangitis
- Clinical practice guidelines
  English (2022) EASL Clinical Practice Guidelines on sclerosing cholangitis - J Hepatol
Secondary short bowel syndrome
- Clinical practice guidelines
  Français (2021) Syndrome du grêle court chez ladulte - PNDS
  
  Français (2023) Syndrome du grêle court de lenfant - PNDS
Secondary syringomyelia
- Clinical practice guidelines
  Français (2024) Syringomyélie - PNDS
  
  Français (2016) Syringomyelie - Les fentes intramédullaires - PNDS
  
  English (2016.pdf) Syringomyelia - Intramedullary clefts - PNDS
Secondary vasculitis
- Article for general public
  Français (2014) - SNFMI
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Clinical practice guidelines
  English (2020) Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome - Eur J Hum Genet
- Clinical genetics review
  English (2021) PTEN Hamartoma Tumor Syndrome - GeneReviews
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Clinical genetics review
  English (2023) PIK3CA-Related Overgrowth Spectrum - GeneReviews
Selective IgM deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Self-improving 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
Self-improving 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
Self-limited childhood occipital epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Review article
  English (2012) Electrical status epilepticus in sleep: clinical presentation and pathophysiology - Pediatr Neurol
Self-limited epilepsy with autonomic seizures
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Review article
  English (2012) Electrical status epilepticus in sleep: clinical presentation and pathophysiology - Pediatr Neurol
Self-limited epilepsy with centrotemporal spikes
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Review article
  English (2012) Benign childhood focal epilepsies - Epilepsia
Self-limited infantile epilepsy
- Article for general public
  English (2016.pdf) SCN2A related conditions - Unique
  
  Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
  
  Русский (2016.pdf) SCN2A related conditions - Unique
  
  Italiano (2016.pdf) Condizioni Mediche Collegate Al Gene SCN2A - Unique
- Clinical genetics review
  English (2023) KCNQ3-Related Disorders - GeneReviews
  
  English (2018) PRRT2-Associated Paroxysmal Movement Disorders - GeneReviews
  
  English (2023) SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders - GeneReviews
Self-limited neonatal epilepsy
- Clinical genetics review
  English (2023) KCNQ3-Related Disorders - GeneReviews
  
  English (2022) - GeneReviews
Self-limited neonatal-infantile epilepsy
- Article for general public
  English (2016.pdf) SCN2A related conditions - Unique
  
  Español (2022) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
  
  Русский (2016.pdf) SCN2A related conditions - Unique
  
  Italiano (2016.pdf) Condizioni Mediche Collegate Al Gene SCN2A - Unique
Semantic dementia
- Article for general public
  Français (2007.pdf) - Orphanet
- Clinical practice guidelines
  Français (2021) Aphasies primaires progressives - PNDS
Semilobar holoprosencephaly
- Clinical genetics review
  English (2020) - GeneReviews
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Senior-Boichis syndrome
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Senior-Loken syndrome
- Clinical practice guidelines
  Français (2024) Transplantation rénale chez lenfant - PNDS
  
  Français (2018) Maladie Rénale Chronique de l'enfant - PNDS
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
- 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
  
  English (2024) Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group - Eur J Neurol
- Clinical genetics review
  English (2018) POLG-Related Disorders - GeneReviews
Septate uterus
- Clinical practice guidelines
  Deutsch (2020) - AWMF
Septo-optic dysplasia spectrum
- Article for general public
  Svenska (2023) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - 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
  
  English (2020) SOX2 Disorder - GeneReviews
Septopreoptic holoprosencephaly
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2010) - Eur J Hum Genet
Serine biosynthesis pathway deficiency, infantile/juvenile form
- Clinical genetics review
  English (2023) Serine Deficiency Disorders - GeneReviews
Seronegative autoimmune hepatitis
- 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
Serotonin syndrome
- Emergency guidelines
  Français (2018.pdf) Syndrome sérotoninergique - Orphanet Urgences
Serous carcinoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Serous cystadenocarcinoma 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
Serpiginous choroiditis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Serrated polyposis syndrome
- Clinical practice guidelines
  English (2019) Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline - Endoscopy
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- Clinical genetics review
  English (2022) SETD2 Neurodevelopmental Disorders - GeneReviews
Severe acute respiratory syndrome
- Article for general public
  Français (2015) - Minist Santé et Prévention
- Review article
  English (2014) - ECDC
Severe autosomal recessive 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
Severe Canavan disease
- Article for general public
  Nederlands (2011.pdf) - EIMD
  
  Svenska (2021) - Socialstyrelsen
- Review article
  English (2011) Childhood leukodystrophies: a clinical perspective - Expert Rev Neurother
- Clinical genetics review
  English (2018) - GeneReviews
Severe combined immunodeficiency
- 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 practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Severe combined immunodeficiency due to adenosine deaminase deficiency
- 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 (2017) Adenosine Deaminase Deficiency - GeneReviews
Severe combined immunodeficiency due to complete RAG1/2 deficiency
- 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
Severe combined immunodeficiency due to CORO1A deficiency
- 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
Severe combined immunodeficiency due to DCLRE1C deficiency
- 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
Severe combined immunodeficiency due to DNA-PKcs deficiency
- 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
Severe combined immunodeficiency due to FOXN1 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
- Review article
  English (2017) FOXN1 deficient nude severe combined immunodeficiency - Orphanet J Rare Dis
Severe combined immunodeficiency due to LCK deficiency
- 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
Severe congenital 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
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
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
Severe congenital neutropenia due to G6PC3 deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2015) G6PC3 Deficiency - GeneReviews
Severe congenital neutropenia due to JAGN1 deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
Severe dermatitis-multiple allergies-metabolic wasting syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Severe early-childhood-onset retinal dystrophy
- Clinical genetics review
  English (2019) RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy - GeneReviews
  
  English (2023) Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview - GeneReviews
Severe early-onset axonal neuropathy due to MFN2 deficiency
- 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
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
Severe generalized junctional 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Severe hemophilia A
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Anesthesia guidelines
  English (2016) - Orphananesthesia
  
  Español (2016) - Orphananesthesia
  
  Čeština (2016) - Orphananesthesia
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia A - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2011) - Eur J Hum Genet
Severe hemophilia B
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2022.pdf) Hémophilie - Orphanet Urgences
  
  Deutsch (2009.pdf) Hämophilie - Orphanet Urgences
  
  Italiano (2009.pdf) Emofilia - Orphanet Urgences
- Clinical practice guidelines
  Français (2023) Hémophilie - PNDS
  
  Français (2012) - WFH
  
  Français (2022) Saignements Utérins Abondants (SUA) chez la jeune femme atteinte de maladies hémorragiques rares constitutionnelles ou acquises (MHCA) - PNDS
  
  English (2020) WFH Guidelines for the Management of Hemophilia, 3rd edition - Haemophilia
  
  Español (2012.pdf) - World Federation of Hemophilia
  
  Русский (2012.pdf) - World Federation of Hemophilia
  
  中文 (2012.pdf) - World Federation of Hemophilia
  
  العربية (2012.pdf) - World Federation of Hemophilia
- Clinical genetics review
  English (2023) Hemophilia B - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
  
  English (2012) - Eur J Hum Genet
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- Article for general public
  Deutsch (2015.pdf) - BVHK
Severe intellectual disability and progressive 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
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Article for general public
  English (2016.pdf) GATAD2B-associated neurodevelopmental disorder (GAND) GATAD2B syndrome - Unique
  
  Nederlands (2016.pdf) GATAD2B - Unique
  
  Русский (2016.pdf) GATAD2B - Unique
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy 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
  
  Français (2024) Colobomes oculaires - 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
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- Article for general public
  English (2015.pdf) PURA And 5q31 - Unique
- Clinical genetics review
  English (2017) PURA-Related Neurodevelopmental Disorders - GeneReviews
Severe oculo-renal-cerebellar syndrome
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
Severe phosphoribosylpyrophosphate synthetase superactivity
- Clinical genetics review
  English (2022) Phosphoribosylpyrophosphate Synthetase Superactivity - GeneReviews
Severe primary trimethylaminuria
- Clinical genetics review
  English (2020) Primary Trimethylaminuria - GeneReviews
- Guidance for genetic testing
  English (2011) - Eur J Hum Genet
Sex chromosome difference of sex development
- Clinical practice guidelines
  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
- Review article
  English (2012) - RadioGraphics
  
  Español (2022) Guía de actuación en las Anomalías de la Diferenciación Sexual (ADS) / Desarrollo Sexual Diferente (DSD) - SEEP
Sheldon-Hall syndrome
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
- Review article
  English (2009) - Orphanet J Rare Dis
Shiga toxin-associated hemolytic uremic syndrome
- Article for general public
  Français (2015) - Minist Santé et Prévention
- Emergency guidelines
  Français (2021.pdf) Microangiopathies thrombotiques - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2012) Thrombotic microangiopathy and associated renal disorders - Nephrol Dial Transplant
Shone complex
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Short bowel syndrome
- Clinical practice guidelines
  Français (2021) Syndrome du grêle court chez ladulte - PNDS
  
  Français (2023) Syndrome du grêle court de lenfant - PNDS
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Short chain acyl-CoA dehydrogenase deficiency
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Clinical genetics review
  English (2018) Short-Chain Acyl-CoA Dehydrogenase Deficiency - GeneReviews
Short rib-polydactyly syndrome, Saldino-Noonan type
- Clinical practice guidelines
  Français (2021) Malformations ano-rectales isolées - Diagnostic et prise en charge de la naissance à lâge de 6 ans - PNDS
Short stature due to GHSR deficiency
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Review article
  English (2016) 'The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases' - Orphanet J Rare Dis
Short stature-brachydactyly-obesity-global developmental delay syndrome
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
- 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
Short stature-pituitary and cerebellar defects-small sella turcica 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
SHORT syndrome
- Clinical practice guidelines
  English (2016) The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline - J Clin Endocrinol Metab
- Clinical genetics review
  English (2020) SHORT Syndrome - GeneReviews
Short-limb skeletal dysplasia with severe combined immunodeficiency
- 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
SHOX-related short stature
- Clinical genetics review
  English (2018) SHOX Deficiency Disorders - GeneReviews
Shprintzen-Goldberg syndrome
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Français (2019.pdf) - Fondation Groupama
- Anesthesia guidelines
  English (2013) - Orphananesthesia
  
  Español (2013) - Orphananesthesia
  
  Čeština (2013) - Orphananesthesia
- Clinical genetics review
  English (2020) Shprintzen-Goldberg Syndrome - GeneReviews
Shwachman-Diamond syndrome
- Article for general public
  Deutsch (2021.pdf) - Kindernetzwerk e.V.
  
  Svenska (2017) - Socialstyrelsen
- Emergency guidelines
  Français (2010.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
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
  
  Français (2023) Maladie de Shwachman Diamond - PNDS
  
  Français (2024) Aplasies médullaires acquises et constitutionnelles - PNDS
  
  English (2016) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
- Clinical genetics review
  English (2018) Shwachman-Diamond Syndrome - GeneReviews
Sialidosis type 1
- Emergency guidelines
  Français (2013.pdf) Epilepsies myocloniques progressives (EMP) - Orphanet Urgences
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Sialidosis type 2
- Emergency guidelines
  Français (2013.pdf) Epilepsies myocloniques progressives (EMP) - Orphanet Urgences
Sialuria
- Clinical genetics review
  English (2012) - GeneReviews
Sickle cell anemia
- Article for general public
  Français (2011.pdf) - Orphanet
  
  Svenska (2023) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2018) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'enfant et de l'adolescent - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Deutsch (2020) - AWMF
  
  Deutsch (2021) - Onkopedia
  
  English (2020) Quality assessment of evidence-based clinical practice guidelines for the management of pregnant women with sickle cell disease using the AGREE II instrument: a systematic review - BMC Pregnancy Childbirth
  
  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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Sickle cell disease and related diseases
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Deutsch (2020) - AWMF
  
  English (2018) Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference - Br J Haematol
  
  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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
Sickle cell disease associated with another hemoglobin anomaly
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Sickle cell-beta-thalassemia disease syndrome
- Article for general public
  Deutsch (2010) - Onkopedia
- Emergency guidelines
  Français (2021.pdf) Drépanocytose - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2010) Syndromes drépanocytaires majeurs de l'adulte - PNDS
  
  Français (2024) Syndromes drépanocytaires majeurs de lenfant et de ladolescent - PNDS
  
  Deutsch (2020) - 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 (2011) ENERCA clinical recommendations for disease management and prevention of complications of sickle cell disease in children - Am J Hematol
  
  English (2014) Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members - JAMA
  
  English (2010) Significant haemoglobinopathies: guidelines for screening and diagnosis - Br J Haematol
- Clinical genetics review
  English (2022) Sickle Cell Disease - GeneReviews
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
Silent pituitary adenoma
- Clinical practice guidelines
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
- Review article
  English (2019) Clinical and Pathological Aspects of Silent Pituitary Adenomas - J Clin Endocrinol Metab
- Clinical genetics review
  English (2020) AIP-Related Familial Isolated Pituitary Adenomas - GeneReviews
Silver-Russell syndrome
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to 11p15 microduplication
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to 7p11.2p13 microduplication
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to a point mutation
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Russell-Silver Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to an imprinting defect of 11p15
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
- Article for general public
  Français (2018) - Tous à l'école
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2011) - Orphananesthesia
  
  Čeština (2011) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Syndrome de Silver-Russell - PNDS
  
  English (2016) EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome - Eur J Hum Genet
  
  English (2016) Diagnosis and management of Silver-Russell syndrome: first international consensus statement - Nat Rev Endocrinol
- Review article
  Español (2015.pdf) - CIBERER
- Clinical genetics review
  English (2019) Silver-Russell Syndrome - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
SIM1-related Prader-Willi-like syndrome
- Clinical genetics review
  English (2023) Prader-Willi Syndrome - GeneReviews
Simple cryoglobulinemia
- Article for general public
  Français (2014) - SNFMI
- Clinical practice guidelines
  Français (2021) Cryoglobulinémies - PNDS
Simpson-Golabi-Behmel syndrome
- Review article
  English (2014) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Simpson-Golabi-Behmel Syndrome Type 1 - GeneReviews
- Guidance for genetic testing
  English (2019) - Eur J Hum Genet
Sinding-Larsen-Johansson disease
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
Single-organ polyarteritis nodosa
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2014) - Socialstyrelsen
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Clinical practice guidelines
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  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
Singleton-Merten dysplasia
- 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
- 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
Sitosterolemia
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Clinical genetics review
  English (2020) Sitosterolemia - GeneReviews
- Guidance for genetic testing
  English (2016) - Eur J Hum Genet
Situs ambiguus
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Situs inversus totalis
- Anesthesia guidelines
  English (2020) - Orphananesthesia
  
  Čeština (2020) - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Sjögren-Larsson syndrome
- Article for general public
  Español (2016) - GuíaSalud
  
  Svenska (2019) - Socialstyrelsen
- Anesthesia guidelines
  English (2019) - Orphananesthesia
  
  Čeština (2019) - Orphananesthesia
  
  Português (2019) - Orphananesthesia
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2013.pdf) - Eur J Hum Genet
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Skeletal Ewing sarcoma
- Article for general public
  English (2017) - PDQ Cancer Inf Sum
- Clinical practice guidelines
  Deutsch (2021) - AWMF
  
  English (2021) Bone sarcomas: ESMO-EURACAN-GENTURIS-ERN PaedCan Clinical Practice Guideline for diagnosis, treatment and follow-up - Ann Oncol
- Review article
  Deutsch (2023) - Onkopedia
  
  English (2016) - PDQ Cancer Inf Sum
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
- Article for general public
  Русский (2022.pdf) CACNA1C Timothy syndrome - Unique
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
- Article for general public
  Русский (2022.pdf) CLTC-related ID - Unique
SLC35A1-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
SLC35A2-CDG
- Clinical practice guidelines
  English (2020) Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG - Genet Med
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
SLC39A13-related spondylodysplastic 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
SLC39A8-CDG
- Clinical genetics review
  English (2023) SLC39A8-CDG - GeneReviews
SLC40A1-related hemochromatosis
- Clinical practice guidelines
  English (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2022) EASL Clinical Practice Guidelines on haemochromatosis - J Hepatol
  
  English (2016) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Eur J Hum Genet
Sleep-related hypermotor epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Review article
  English (2014) Nocturnal frontal lobe epilepsy - Curr Neurol Neurosci Rep
- Clinical genetics review
  English (2023) DEPDC5-Related Epilepsy - GeneReviews
  
  English (2018) KCNT1-Related Epilepsy - GeneReviews
  
  English (2023) Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy - GeneReviews
Small cell carcinoma of the bladder
- Clinical practice guidelines
  Deutsch (2020) - AWMF
- Review article
  English (2011) - Orphanet J Rare Dis
Small cell carcinoma of the ovary
- Article for general public
  Français (2010) - INCa
- Clinical practice guidelines
  Français (2010) - ALD
  
  Deutsch (2024) - AWMF
  
  English (2010) Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines - Clin Cancer Res
Small cell lung cancer
- Clinical practice guidelines
  Français (2013) - HAS/INCa
  
  English (2020) Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes - Eur J Hum Genet
- Review article
  Deutsch (2023) - Onkopedia
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
SMARCA4-deficient sarcoma of thorax
- Clinical practice guidelines
  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
Smith-Lemli-Opitz syndrome
- Article for general public
  Deutsch (2021.pdf) - Kindernetzwerk e.V.
  
  Svenska (2017) - Socialstyrelsen
- Clinical practice guidelines
  Français (2025) Syndrome de Smith-Lemli-Opitz - PNDS
- Clinical genetics review
  English (2008.pdf) - Eur J Hum Genet
  
  English (2020) Smith-Lemli-Opitz Syndrome - GeneReviews
- Guidance for genetic testing
  English (2013) - Eur J Hum Genet
Smith-Magenis syndrome
- Article for general public
  Français (2012.pdf) - Orphanet
  
  Svenska (2021) - Socialstyrelsen
- Emergency guidelines
  Français (2011.pdf) Syndrome de Smith-Magenis - Orphanet Urgences
  
  Italiano (2011.pdf) Sindrome di Smith-Magenis - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Syndrome de Smith-Magenis - PNDS
- Clinical genetics review
  English (2008.pdf) - Eur J Hum Genet
  
  English (2022) Smith-Magenis Syndrome - GeneReviews
- Disability factsheet
  Français (2013.pdf) - Orphanet
  
  Español (2018.pdf) - Orphanet
Smith-McCort dysplasia
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
Smoldering 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
Sneddon syndrome
- Review article
  English (2014) - Orphanet J Rare Dis
Soft tissue sarcoma
- 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
- Review article
  English (2017) - PDQ Cancer Inf Sum
Solar urticaria
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Solitary bone cyst
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Solitary fibrous tumor
- 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
- Review article
  English (2017) - PDQ Cancer Inf Sum
Somatomammotropinoma
- Clinical practice guidelines
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
Somatostatinoma
- Clinical practice guidelines
  English (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs) - Gut
- Review article
  English (2012) Pancreatic neuroendocrine tumors: clinical features, diagnosis and medical treatment: advances - Best Pract Res Clin Gastroenterol
Somatotropic adenoma
- Clinical practice guidelines
  English (2018) European Society of Endocrinology Clinical Practice Guidelines for the management of aggressive pituitary tumours and carcinomas - Eur J Endocrinol
Sotos syndrome
- Article for general public
  Deutsch (2021.pdf) - Kindernetzwerk e.V.
  
  Svenska (2021) - Socialstyrelsen
- Anesthesia guidelines
  English (2021) - Orphananesthesia
- Review article
  English (2007) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Sotos Syndrome - GeneReviews
  
  English (2008.pdf) - Eur J Hum Genet
Southeast Asian ovalocytosis
- Clinical practice guidelines
  English (2017) Recommendations regarding splenectomy in hereditary hemolytic anemias - Haematologica
- Guidance for genetic testing
  Français (2019.pdf) - ANPGM
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
Spastic ataxia with congenital miosis
- 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
Spastic ataxia-corneal 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
  English (2009) - Orphanet J Rare Dis
Spastic ataxia-dysarthria due to glutaminase 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
Spastic paraplegia type 2
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2019) PLP1 Disorders - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Spastic paraplegia type 7
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  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 (2020) - 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 (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
  
  English (2018) Spastic Paraplegia 7 - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Spastic paraplegia-facial-cutaneous lesions syndrome
- 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
Spastic paraplegia-glaucoma-intellectual disability syndrome
- 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
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Spastic paraplegia-nephritis-deafness syndrome
- 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
Spastic paraplegia-neuropathy-poikiloderma syndrome
- 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
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
- Article for general public
  Français (2015.pdf) - Fondation Groupama
  
  Svenska (2020) - Socialstyrelsen
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spastic paraplegia-optic atrophy-neuropathy syndrome
- 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
Spastic paraplegia-Paget disease of bone syndrome
- 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
Spastic paraplegia-precocious puberty syndrome
- 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
Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Article for general public
  Français (2015.pdf) - Fondation Groupama
- Clinical genetics review
  English (2021) Hereditary Spastic Paraplegia Overview - GeneReviews
- Disability factsheet
  Français (2018.pdf) - Orphanet
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
- Clinical genetics review
  English (2023) Serine Deficiency Disorders - GeneReviews
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
- 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
Spectrin-associated 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
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
Spermatocytic seminoma
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
Spheroid body myopathy
- Article for general public
  Svenska (2023) Myofibrillära myopatier - Socialstyrelsen
Spina bifida and other spinal dysraphisms
- Article for general public
  Deutsch (2020.pdf) - Kindernetzwerk e.V.
- Clinical practice guidelines
  Français (2020) Dysraphisme spinal (Spina Bifida) - prise en charge urologique à l'âge adulte - PNDS
Spinal arteriovenous metameric syndrome
- Emergency guidelines
  Français (2018.pdf) Malformations artérioveineuses médullaires - Orphanet Urgences
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal cord injury
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal dermal sinus
- Clinical practice guidelines
  Français (2021) Spina Bifida Dysraphismes - Gestion du handicap intestinal - PNDS
  
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
  
  Français (2015) Prise en charge en médecine physique et de réadaptation du patient atteint de Spina Bifida - PNDS
Spinal dysraphism with a posterior meningocele
- Clinical practice guidelines
  Français (2020) Dysraphisme spinal (Spina Bifida) - prise en charge urologique à l'âge adulte - PNDS
Spinal muscular atrophy associated with central nervous system anomaly
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal muscular atrophy with respiratory distress type 1
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2022) - Orphananesthesia
  
  English (2022) - Orphananesthesia
  
  Español (2022) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Disability factsheet
  Français (2019.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal muscular atrophy with respiratory distress type 2
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
- Clinical genetics review
  English (2018) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spindle cell hemangioma
- Article for general public
  English (2016) - PDQ Cancer Inf Sum
- Review article
  English (2017) - PDQ Cancer Inf Sum
Spinocerebellar 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
  
  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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Spinocerebellar Ataxia Type 1 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 10
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Spinocerebellar Ataxia Type 10 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 11
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Spinocerebellar Ataxia Type 11 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 12
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2011) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 13
- 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 (2020) Spinocerebellar Ataxia Type 13 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 14
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Spinocerebellar Ataxia Type 14 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 15/16
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2014) Spinocerebellar Ataxia Type 15 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 17
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2022) Spinocerebellar Ataxia Type 17 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 18
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 19/22
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 2
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Spinocerebellar Ataxia Type 2 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 20
- 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) Spinocerebellar Ataxia Type 20 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 21
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 23
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 25
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 26
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 27A
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 27B
- 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 (2024) GAA-FGF14-Related Ataxia - GeneReviews
Spinocerebellar ataxia type 28
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Spinocerebellar Ataxia Type 28 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 29
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 3
- Article for general public
  Français (2021.pdf) Ataxie : qu'est-ce que c'est ? - ERN-RND
  
  Français (2014.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
  
  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
- Review article
  English (2011.pdf) - Orphanet J Rare Dis
- Clinical genetics review
  English (2020) Spinocerebellar Ataxia Type 3 - GeneReviews
- Disability factsheet
  Français (2014.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 30
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 31
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 32
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 34
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 35
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 36
- 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 (2014) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 37
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
  
  English (2019) Spinocerebellar Ataxia Type 37 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 38
- 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) Spinocerebellar Ataxia Type 38 - GeneReviews
  
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
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
  
  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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 40
- 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 (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 41
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 42
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 43
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 44
- 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
Spinocerebellar ataxia type 45
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 46
- 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 48
- 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
Spinocerebellar ataxia type 49
- 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
Spinocerebellar ataxia type 5
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2023) Hereditary Ataxia Overview - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 6
- 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
- Review article
  English (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2019) Spinocerebellar Ataxia Type 6 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia type 7
- 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 (2020) Spinocerebellar Ataxia Type 7 - GeneReviews
Spinocerebellar ataxia type 8
- 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
- Review article
  English (2011) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Spinocerebellar Ataxia Type 8 - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Spinocerebellar ataxia with axonal neuropathy 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 (2022) Spinocerebellar Ataxia with Axonal Neuropathy Type 1 - GeneReviews
Spinocerebellar ataxia with axonal neuropathy type 2
- 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
- Clinical genetics review
  English (2018) - GeneReviews
Spinocerebellar ataxia with epilepsy
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Clinical genetics review
  English (2018) POLG-Related Disorders - GeneReviews
Spinocerebellar ataxia-dysmorphism 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
Spinocerebellar degeneration-corneal 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
Split cord malformation
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Split cord malformation type I
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Split cord malformation type II
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Split cord malformation, composite type
- Clinical practice guidelines
  Français (2021) Prise en charge des dysraphismes en période périnatale - PNDS
Spondylo-ocular syndrome
- 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
Spondylocarpotarsal synostosis
- Clinical genetics review
  English (2020) - GeneReviews
Spondylodysplastic Ehlers-Danlos syndrome
- 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
Spondyloenchondrodysplasia
- Clinical practice guidelines
  Français (2024) Interféronopathies - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- Clinical genetics review
  English (2019) - GeneReviews
Spondyloepimetaphyseal dysplasia, aggrecan type
- Review article
  English (2016) 'The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases' - Orphanet J Rare Dis
Spondyloepimetaphyseal dysplasia, Maroteaux type
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical genetics review
  English (2020) - GeneReviews
Spondyloepiphyseal dysplasia congenita
- Article for general public
  Svenska (2018) - Socialstyrelsen
- Clinical genetics review
  English (2019) - GeneReviews
Spondyloepiphyseal dysplasia tarda
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical genetics review
  English (2023) X-Linked Spondyloepiphyseal Dysplasia Tarda - GeneReviews
Spondyloepiphyseal dysplasia, Kimberley type
- Review article
  English (2016) 'The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases' - Orphanet J Rare Dis
Spondylometaphyseal dysplasia, 'corner fracture' type
- Clinical genetics review
  English (2020) Spondylometaphyseal Dysplasia, Corner Fracture Type - GeneReviews
Spondylometaphyseal dysplasia, Kozlowski type
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Clinical genetics review
  English (2020) - GeneReviews
Spondyloperipheral dysplasia-short ulna syndrome
- Clinical genetics review
  English (2019) - GeneReviews
Spontaneous intracranial hypotension
- Clinical practice guidelines
  Deutsch (2023) - AWMF
Sporadic adult-onset ataxia of unknown etiology
- 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
Sporadic Creutzfeldt-Jakob disease
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Clinical practice guidelines
  Deutsch (2024) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Sporadic pheochromocytoma/secreting paraganglioma
- Article for general public
  English (2011) - PDQ Cancer Inf Sum
- Emergency guidelines
  Français (2023.pdf) Phéochromocytomes et paragangliomes fonctionnels - Orphanet Urgences
  
  Español (2024.pdf) Feocromocitomas y paragangliomas funcionantes - Orphanet Urgences
- Anesthesia guidelines
  English (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
  
  Español (2016) Recomendaciones para la anestesia de pacientes con paraganglioma y feocromocitoma - Orphananesthesia
  
  Čeština (2016) Anaesthesia recommendations for patients suffering from Paraganglioma & Pheochromocytoma - Orphananesthesia
- Clinical practice guidelines
  Français (2021) Phéochromocytomes et Paragangliomes - PNDS
  
  English (2016) European Society of Endocrinology Clinical Practice Guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma - Eur J Endocrinol
  
  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
- Guidance for genetic testing
  Français (2015.pdf) - ANPGM
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Squamous cell carcinoma of 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
Squamous 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
Squamous cell carcinoma of the cervix uteri
- Article for general public
  Français (2011) - INCa
- Clinical practice guidelines
  Deutsch (2021) - AWMF
Squamous cell carcinoma of the corpus uteri
- Article for general public
  Français (2013) - INCa
Squamous cell carcinoma of the esophagus
- 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
Squamous cell carcinoma of the hypopharynx
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Squamous cell carcinoma of the oropharynx
- Clinical practice guidelines
  Deutsch (2024) - AWMf
Squamous cell carcinoma 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
Squamous cell carcinoma of the stomach
- Clinical practice guidelines
  Français (2011) - ALD
  
  Deutsch (2019) - AWMF
SRD5A3-CDG
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
- Guidance for genetic testing
  English (2020) SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card - Eur J Hum Genet
SSR4-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
St. Louis encephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Stargardt disease
- Article for general public
  Français (2007.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Français (2021) Maculopathies génétiques - PNDS
  
  Español (2017.pdf) - Ministerio de Sanidad
- Disability factsheet
  Français (2017.pdf) - Orphanet
Startle epilepsy
- Article for general public
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections 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
STAT3-related early-onset multisystem autoimmune disease
- Clinical practice guidelines
  Français (2024) Anémies Hémolytiques Auto-Immunes de ladulte - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
Steinert myotonic dystrophy
- Article for general public
  Français (2006.pdf) - Orphanet
  
  Español (2012.pdf) - Myotonic Dystrophy Foundation
  
  Svenska (2015) - Socialstyrelsen
  
  Italiano (2009.pdf) - Myotonic Dystrophy Foundation
- Emergency guidelines
  Français (2010.pdf) Dystrophie myotonique de Steinert - Orphanet Urgences
  
  Polski (2010.pdf) Dystrofia miotoniczna typu 1 - Orphanet Urgences
  
  Deutsch (2010.pdf) Myotone Dystrophie Steinert - Orphanet Urgences
  
  English (2010.pdf) Steinert myotonic dystrophy - Orphanet Urgences
  
  Español (2014.pdf) Distrofia miotónica de Steinert - Orphanet Urgences
  
  Italiano (2010.pdf) Distrofia miotonica di Steinert - Orphanet Urgences
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Dystrophie Myotonique de type 1 'Maladie de Steinert' - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2012) Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 - Eur J Hum Genet
  
  Español (2019) - Neurologia
- Review article
  Français (2007.pdf) - Press Med
- Clinical genetics review
  English (2021) - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Guidance for genetic testing
  Français (2009) - ANPGM
Sterile multifocal osteomyelitis with periostitis and pustulosis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- 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
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
- 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
Stevens-Johnson syndrome
- Emergency guidelines
  Français (2019.pdf) Nécrolyse épidermique - Orphanet Urgences
  
  English (2019.pdf) - ERN-Skin
  
  Italiano (2012.pdf) Necrolisi epidermica tossica - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Nécrolyses épidermiques chez lenfant - PNDS
  
  Français (2023) Nécrolyse épidermique de l'adulte - Syndromes de Stevens-Johnson et de Lyell - PNDS
  
  English (2023) Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus - Orphanet J Rare Dis
  
  English (2019) British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018 - Br J Dermatol
  
  English (2020) Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement - Orphanet J Rare Dis
  
  English (2020) Society of Dermatology Hospitalists supportive care guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults - J Am Acad Dermatol
  
  English (2016) U.K. guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults 2016 - Br J Dermatol
  
  English (2021) Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensus - Br J Dermatol
- Review article
  Français (2007.pdf) - Rev Praticien
  
  English (2010) - Orphanet J Rare Dis
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
- Emergency guidelines
  Français (2019.pdf) Nécrolyse épidermique - Orphanet Urgences
  
  English (2019.pdf) - ERN-Skin
  
  Italiano (2012.pdf) Necrolisi epidermica tossica - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Nécrolyses épidermiques chez lenfant - PNDS
  
  Français (2023) Nécrolyse épidermique de l'adulte - Syndromes de Stevens-Johnson et de Lyell - PNDS
  
  English (2023) Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus - Orphanet J Rare Dis
  
  English (2019) British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018 - Br J Dermatol
  
  English (2020) Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement - Orphanet J Rare Dis
  
  English (2020) Society of Dermatology Hospitalists supportive care guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults - J Am Acad Dermatol
  
  English (2016) U.K. guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults 2016 - Br J Dermatol
  
  English (2021) Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensus - Br J Dermatol
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
- Emergency guidelines
  Français (2019.pdf) Nécrolyse épidermique - Orphanet Urgences
  
  English (2019.pdf) - ERN-Skin
  
  Italiano (2012.pdf) Necrolisi epidermica tossica - Orphanet Urgences
- Clinical practice guidelines
  Français (2021) Nécrolyses épidermiques chez lenfant - PNDS
  
  Français (2023) Nécrolyse épidermique de l'adulte - Syndromes de Stevens-Johnson et de Lyell - PNDS
  
  Deutsch (2023) - AWMF
  
  English (2023) Post-acute phase and sequelae management of epidermal necrolysis: an international, multidisciplinary DELPHI-based consensus - Orphanet J Rare Dis
  
  English (2019) British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018 - Br J Dermatol
  
  English (2020) Management of ocular involvement in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: french national audit of practices, literature review, and consensus agreement - Orphanet J Rare Dis
  
  English (2020) Society of Dermatology Hospitalists supportive care guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults - J Am Acad Dermatol
  
  English (2016) U.K. guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in adults 2016 - Br J Dermatol
  
  English (2021) Supportive care in the acute phase of Stevens-Johnson syndrome and toxic epidermal necrolysis: an international, multidisciplinary Delphi-based consensus - Br J Dermatol
- Review article
  Français (2007.pdf) - Orphanet
  
  English (2010) - Orphanet J Rare Dis
Stickler syndrome
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Français (2016.pdf) - Orphanet
- 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
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Stickler syndrome type 1
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Français (2016.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2025) Le syndrome de Stickler - PNDS
  
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2023) Stickler Syndrome - GeneReviews
- Diagnostic criteria
  English (2005) Stickler syndrome: clinical characteristics and diagnostic criteria - Am J Med Genet
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Stickler syndrome type 2
- Article for general public
  Suomi (2014.pdf) - FPD RD Unit
  
  Français (2016.pdf) - Orphanet
  
  Español (2016) - GuíaSalud
- Anesthesia guidelines
  English (2017) - Orphananesthesia
  
  Čeština (2017) - Orphananesthesia
- Clinical practice guidelines
  Français (2025) Le syndrome de Stickler - PNDS
  
  Español (2017.pdf) - Ministerio de Sanidad
- Clinical genetics review
  English (2023) Stickler Syndrome - GeneReviews
- Diagnostic criteria
  English (2005) Stickler syndrome: clinical characteristics and diagnostic criteria - Am J Med Genet
- Disability factsheet
  Français (2016.pdf) - Orphanet
  
  Español (2017.pdf) - Orphanet
Stiff person spectrum disorder
- Article for general public
  Svenska (2015) - Socialstyrelsen
- Anesthesia guidelines
  Deutsch (2014) - Orphananesthesia
  
  English (2014) - Orphananesthesia
  
  Español (2014) - Orphananesthesia
  
  Čeština (2014) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Deutsch (2017) - AWMF
STING-associated vasculopathy with onset in infancy
- 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
Stormorken-Sjaastad-Langslet syndrome
- 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
Straddling and/or overriding mitral valve
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Straddling or overriding tricuspid valve
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Streptococcus pneumoniae-associated hemolytic uremic syndrome
- Clinical practice guidelines
  Deutsch (2022) - AWMF
Stromal corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) Congenital Stromal Corneal Dystrophy - GeneReviews
Stromme syndrome
- Clinical genetics review
  English (2022) Stromme Syndrome - GeneReviews
  
  English (2022) - GeneReviews
- Guidance for genetic testing
  English (2019) - Eur J Hum Genet
Strongyloidiasis
- Clinical practice guidelines
  Français (2018) - World Gastroenterol Org
  
  English (2018) Management of Strongyloidiasis - World Gastroenterol Org
  
  Español (2018) - World Gastroenterol Org
  
  Русский (2018) - World Gastroenterol Org
  
  中文 (2018) - World Gastroenterol Org
  
  Português (2018) - WGO
STT3A-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
STT3B-CDG
- Clinical genetics review
  English (2017) Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews
Sturge-Weber syndrome
- Article for general public
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2021.pdf) Syndrome de Sturge-Weber - Orphanet Urgences
  
  Español (2024.pdf) Síndrome de Sturge-Weber - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) Recomendaciones anestésicas para pacientes con Síndrome de Sturge-Weber - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2024) Syndrome de Sturge Weber - PNDS
  
  Français (2024) Syndrome de Sturge Weber - PNDS
STXBP1-related encephalopathy
- Article for general public
  English (2015.pdf) Disorders Of STXBP1 - Unique
  
  Español (2019.pdf) Trastornos de STXBP1 - Unique
  
  Русский (2022.pdf) Disorders Of STXBP1 - Unique
- Clinical genetics review
  English (2023) STXBP1 Encephalopathy with Epilepsy - GeneReviews
Stüve-Wiedemann syndrome
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Review article
  English (2014) - Orphanet J Rare Dis
Subacute sclerosing leukoencephalitis
- Clinical practice guidelines
  Deutsch (2024) - AWMF
Subaortic course of innominate vein
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Subcortical band heterotopia
- Clinical genetics review
  English (2019) DCX-Related Disorders - GeneReviews
Subcutaneous panniculitis-like T-cell lymphoma
- Review article
  English (2012.pdf) - Blood Cancer J
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Subependymal giant cell astrocytoma
- Clinical practice guidelines
  English (2011.pdf) - BNOS
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Subependymoma
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2022) EANO - EURACAN - SNO Guidelines on circumscribed astrocytic gliomas, glioneuronal, and neuronal tumors - Neuro Oncol
Subepithelial mucinous corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Submucosal cleft palate
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Subpulmonary stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2018) - AWMF
Succinic semialdehyde dehydrogenase deficiency
- Article for general public
  Svenska (2014) - Socialstyrelsen
- Clinical genetics review
  English (2016) Succinic Semialdehyde Dehydrogenase Deficiency - GeneReviews
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Succinyl-CoA:3-oxoacid CoA transferase deficiency
- Emergency guidelines
  Français (2022) Déficit de la cétolyse - G2M
  
  Français (2023) Acidose métabolique - G2M
  
  English (2022.pdf) Ketoacidosis from ketolysis disorders : SCOT - MAT - MCT1 - G2M
  
  English (2012.pdf) - Brit Inher Metab Dis Group
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
- Clinical genetics review
  English (2023) Molybdenum Cofactor Deficiency - GeneReviews
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
- Clinical genetics review
  English (2023) Molybdenum Cofactor Deficiency - GeneReviews
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
- Clinical genetics review
  English (2023) Molybdenum Cofactor Deficiency - GeneReviews
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
- Clinical genetics review
  English (2023) Molybdenum Cofactor Deficiency - GeneReviews
Superficial corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Superficial 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
Superficial pemphigus
- Clinical practice guidelines
  Français (2018) Maladies bulleuses auto-immunes : Pemphigus - PNDS
  
  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
Superficial siderosis
- 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
Supravalvular aortic stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
Supravalvular pulmonary stenosis
- Clinical practice guidelines
  Français (2021) Prise en charge de la grossesse chez les patientes avec une cardiopathie congénitale complexe - PNDS
  
  Deutsch (2018) - AWMF
SURF1-related Charcot-Marie-Tooth disease type 4
- 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
Susac syndrome
- Article for general public
  Français (2014) - SNFMI
- Emergency guidelines
  Français (2020.pdf) Syndrome de Susac - Orphanet Urgences
- Review article
  English (2014) Diagnosis and classification of Susac syndrome - Autoimmun Rev
Susceptibility to infection due to TYK2 deficiency
- Article for general public
  Svenska (2019) - Socialstyrelsen
- Review article
  English (2011) - Orphanet J Rare Dis
Susceptibility to respiratory infections associated with CD8alpha chain mutation
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Susceptibility to viral and mycobacterial infections due to STAT1 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
Sweet syndrome
- Review article
  English (2007) - Orphanet J Rare Dis
Sydenham chorea
- Review article
  English (2011) The worldwide epidemiology of acute rheumatic fever and rheumatic heart disease - Clin Epidemiol
Symbrachydactyly of hands and feet
- Review article
  English (2008) - Orphanet J Rare Dis
Sympathetic ophthalmia
- Clinical practice guidelines
  Deutsch (2023) - AWMF
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
- Diagnostic Keys
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2023) Uvéite - Les clés du diagnostic
  
  Français (2023) Uvéite - Les clés du diagnostic
Symptomatic form of Coffin-Lowry syndrome in female carriers
- Clinical genetics review
  English (2023) RPS6KA3-Related Intellectual Disability - GeneReviews
Symptomatic form of HFE-related hemochromatosis
- Article for general public
  Français (2006.pdf) - Orphanet
- Clinical practice guidelines
  English (2011) Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases - Hepatology
  
  English (2010) Guidelines for the diagnosis and management of adult aplastic anaemia - Br J Haematol
  
  English (2022) EASL Clinical Practice Guidelines on haemochromatosis - J Hepatol
  
  English (2016) EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH) - Eur J Hum Genet
  
  English (2010) EASL clinical practice guidelines for HFE hemochromatosis - J Hepatol
  
  English (2018) Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype - Hepatol Int
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  English (2010) - Eur J Hum Genet
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Clinical genetics review
  English (2018) - GeneReviews
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Synaptic congenital myasthenic syndromes
- Clinical practice guidelines
  Deutsch (2022) - AWMF
- Review article
  English (2019) - Orphanet J Rare Dis
- Clinical genetics review
  English (2021) Congenital Myasthenic Syndromes Overview - GeneReviews
Syndactyly type 1
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Syndactyly type 2
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Syndactyly type 3
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Syndactyly type 4
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Syndactyly type 5
- Review article
  English (2012) The epidemiology, genetics and future management of syndactyly - Open Orthop J
Syndactyly-telecanthus-anogenital and renal malformations syndrome
- Article for general public
  Deutsch (2020.pdf) - Soma e.V.
Syndome with combined immunodeficiency due to thymic defect
- 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
Syndrome associated with hypertrophic cardiomyopathy
- Emergency guidelines
  Français (2018.pdf) Cardiomyopathie hypertrophique - Orphanet Urgences
- Clinical practice guidelines
  English (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) - Eur Heart J
Syndrome with 46,XX difference of sex development
- Clinical practice guidelines
  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
- Review article
  English (2012) - RadioGraphics
Syndrome with 46,XY difference of sex development
- Clinical practice guidelines
  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
- Review article
  English (2012) - RadioGraphics
Syndrome with alpha-thalassemia as a major feature
- 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
Syndrome with combined immunodeficiency
- 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
Syndrome with congenital neutropenia as a major feature
- Clinical practice guidelines
  Français (2024) Neutropénies chroniques - PNDS
  
  Français (2022) Déficits immunitaires héréditaires - PNDS
- Review article
  English (2011) - Orphanet J Rare Dis
Syndrome with microcephaly as a major feature
- Clinical practice guidelines
  Deutsch (2019) - AWMF
Syndrome with pulmonary hypertension as a major feature
- Clinical practice guidelines
  English (2022) 2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension - Eur Heart J
Syndromic agammaglobulinemia
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Syndromic aniridia
- Clinical practice guidelines
  Français (2019) Aniridie - PNDS
- Clinical genetics review
  English (2012.pdf) - Eur J Hum Genet
Syndromic anorectal malformation
- 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
Syndromic constitutional thrombocytopenia
- 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
Syndromic corneal dystrophy
- Review article
  English (2009) - Orphanet J Rare Dis
Syndromic craniosynostosis
- Clinical practice guidelines
  Deutsch (2023) - AWMF
  
  English (2015) Guideline for Care of Patients With the Diagnoses of Craniosynostosis: Working Group on Craniosynostosis - J Craniofac Surg
Syndromic diarrhea
- 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 (2013) - Orphanet J Rare Dis
- Clinical genetics review
  English (2018) - GeneReviews
Syndromic eyelid coloboma
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
Syndromic genetic deafness
- Clinical genetics review
  English (2023) Hereditary Hearing Loss and Deafness Overview - GeneReviews
Syndromic hereditary optic neuropathy
- Clinical practice guidelines
  Français (2021) Neuropathies optiques héréditaires - PNDS
Syndromic hypothyroidism
- 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
- Review article
  English (2010) - Orphanet J Rare Dis
- Guidance for genetic testing
  Français (2016.pdf) - ANPGM
Syndromic microphthalmia type 5
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Syndromic microphthalmia-anophthalmia-coloboma
- Clinical practice guidelines
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2024) Colobomes oculaires - PNDS
  
  Français (2022) Microphtalmie - Anophtalmie - PNDS
- Clinical genetics review
  English (2015) - GeneReviews
- Guidance for genetic testing
  English (2020) CUGC for syndromic microphthalmia including next-generation sequencing-based approaches - Eur J Hum Genet
Syndromic multisystem autoimmune disease due to Itch deficiency
- Clinical practice guidelines
  Français (2022) Déficits immunitaires héréditaires - PNDS
Syndromic obesity
- Clinical practice guidelines
  Français (2021) Générique obésités de causes rares - PNDS
Syndromic oculocutaneous albinism
- Article for general public
  Español (2018) - ALBA
- Clinical practice guidelines
  English (2021) Management of albinism: French guidelines for diagnosis and care - J Eur Acad Dermatol Venereol
Syndromic optic nerve hypoplasia
- Article for general public
  Svenska (2023) - Socialstyrelsen
Syndromic recessive X-linked ichthyosis
- 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
Syndromic rod-cone dystrophy
- Article for general public
  Español (2016) - GuíaSalud
- Clinical practice guidelines
  Español (2017.pdf) - Ministerio de Sanidad
SYNGAP1-related developmental and epileptic encephalopathy
- Article for general public
  English (2015.pdf) SYNGAP1 Syndrome - Unique
  
  Español (2023) Guía Multidisciplinar de Epilepsia Infantojuvenil - Asociación Nacional de Personas con Epilepsia-ANPE
  
  Русский (2015.pdf) SYNGAP1 syndrome - Unique
- Clinical genetics review
  English (2019) SYNGAP1-Related Intellectual Disability - GeneReviews
Synovial sarcoma
- 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
- Review article
  English (2016) Synovial sarcoma: current perspectives - Clin Oncol Adolesc Young Adults
Syringomyelia
- Clinical practice guidelines
  Français (2024) Syringomyélie - PNDS
  
  Français (2016) Syringomyelie - Les fentes intramédullaires - PNDS
  
  English (2016.pdf) Syringomyelia - Intramedullary clefts - PNDS
Systemic capillary leak syndrome
- Emergency guidelines
  Français (2013.pdf) Syndrome de Clarkson - Orphanet Urgences
Systemic disease with glomerulopathy as a major feature
- Clinical practice guidelines
  English (2021) KDIGO 2021 Clinical Practice Guideline for the Management of Glomerular Diseases - Kidney Int
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
- Review article
  English (2012.pdf) - Blood Cancer J
Systemic lupus erythematosus
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2013.pdf) - Orphanet
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Diagnostic Keys
  Français (2021) Livédo - Les clés du diagnostic
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - 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) 2019 update of the EULAR recommendations for the management of systemic lupus erythematosus - Ann Rheum Dis
  
  English (2019) 2019 update of the EULAR recommendations for the management of systemic lupus erythematosus - 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
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Systemic mastocytosis
- Article for general public
  Deutsch (2018.pdf) - ÄZQ
- 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
Systemic mastocytosis with associated hematologic neoplasm
- 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
Systemic polyarteritis nodosa
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Svenska (2014) - Socialstyrelsen
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Clinical practice guidelines
  Français (2019) Vascularites nécrosantes systémiques (périartérite noueuse et vascularites associées aux ANCA) - PNDS
  
  Deutsch (2024) - AWMF
  
  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
Systemic primary carnitine deficiency
- Article for general public
  Svenska (2020) - Socialstyrelsen
- Emergency guidelines
  Français (2023) Protocole d'urgence - présentations cardiaques aigues des maladies héréditaires du métabolisme (Patient non connu) - G2M
  
  English (2022.pdf) Protocol for Carnitine transporter deficiency (group of mitochondrial fatty acid ß-oxidation deficiencies) - G2M
  
  English (2008.pdf) - Brit Inher Metab Dis Group
- Clinical practice guidelines
  Français (2021) Déficit en MCAD et autres déficits de la ?-oxydation mitochondriale des acides gras - PNDS
- Review article
  English (2012) - Orphanet J Rare Dis
- Clinical genetics review
  English (2016) Systemic Primary Carnitine Deficiency - GeneReviews
Systemic sclerosis
- Article for general public
  Français (2014) - SNFMI
  
  Deutsch (2017.pdf) - ACHSE
  
  Svenska (2022) - Socialstyrelsen
- Emergency guidelines
  Français (2025.pdf) Sclérodermie systémique - Orphanet Urgences
  
  Deutsch (2010.pdf) Systemische Sklerodermie - Orphanet Urgences
  
  Español (2017.pdf) Esclerodermia sistémica - Orphanet Urgences
  
  Italiano (2014.pdf) Sclerodermia sistemica - Orphanet Urgences
- Anesthesia guidelines
  English (2015) - Orphananesthesia
  
  Español (2015) - Orphananesthesia
  
  Čeština (2015) - Orphananesthesia
- Clinical practice guidelines
  Français (2022) Greffe de cellules souches hématopoïétiques dans les maladies auto-immunes - PNDS
  
  Français (2017) Sclérodermie Systémique - PNDS
  
  English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
  
  English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
  
  English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
  
  English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
  
  English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
  
  English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
  
  English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
  
  English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
  
  English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
  
  English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
  
  English (2018) Systemic sclerosis: state of the art on clinical practice guidelines - RMD Open
  
  English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
  
  English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
  
  English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
  
  English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
  
  English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
  
  English (2004) Consensus statement concerning cardiotoxicity occurring during haematopoietic stem cell transplantation in the treatment of autoimmune diseases, with special reference to systemic sclerosis and multiple sclerosis - Bone Marrow Transplant
  
  English (2014) Consensus opinion of a North American Working Group regarding the classification of digital ulcers in systemic sclerosis - Clin Rheumatol
  
  English (2013) Guidelines of the Brazilian society of bone Marrow transplantation on hematopoietic stem cell transplantation as a treatment for the autoimmune diseases systemic sclerosis and multiple sclerosis - Rev Bras Hematol Hemoter
  
  English (2017) Update of EULAR recommendations for the treatment of systemic sclerosis - Ann Rheum Dis
  
  English (2020) The identification and management of interstitial lung disease in systemic sclerosis: evidence-based European consensus statements - Lancet Rheumatol
  
  English (2010) Systemic sclerosis-associated interstitial lung disease-proposed recommendations for future randomized clinical trials - Clin Exp Rheumatol
  
  English (2018) Systemic sclerosis: state of the art on clinical practice guidelines - RMD Open
  
  English (2020) Standardisation of nailfold capillaroscopy for the assessment of patients with Raynaud's phenomenon and systemic sclerosis - Autoimmun Rev
  
  English (2010) Screening and therapy for malnutrition and related gastro-intestinal disorders in systemic sclerosis: recommendations of a North American expert panel - Clin Exp Rheumatol
  
  English (2013) Recommendations for the management and treatment of systemic sclerosis - Rev Bras Reumatol
  
  English (2011) Recommendations for the care of oral involvement in patients with systemic sclerosis - Arthritis Care Res
  
  English (2014) Expert consensus for performing right heart catheterisation for suspected pulmonary arterial hypertension in systemic sclerosis: a Delphi consensus study with cluster analysis - Ann Rheum Dis
  
  English (2017) Consensus best practice pathway of the UK Systemic Sclerosis Study group: management of cardiac disease in systemic sclerosis - Rheumatology
  
  English (2014) Consensus best practice pathway of the UK scleroderma study group: gastrointestinal manifestations of systemic sclerosis - Clin Exp Rheumatol
  
  English (2015) Consensus best practice pathway of the UK Scleroderma Study Group: digital vasculopathy in systemic sclerosis - Rheumatology
  
  English (2017) Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners - Bone Marrow Transplant
  
  English (2021) French recommendations for the management of systemic sclerosis - Orphanet J Rare Dis
  
  Español (2020.pdf) - Asoc Española de Pediatría
  
  Português (2013) Recomendações sobre diagnóstico e tratamento da esclerose sistêmica - Rev Bras Reumatol
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Diagnostic Keys
  Français (2022) Acrosyndrome - Les clés du diagnostic
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Systemic vasculitis associated with glomerulopathy
- Emergency guidelines
  Français (2021.pdf) Vascularites nécrosantes systémiques - Orphanet Urgences
Systemic-onset juvenile idiopathic arthritis
- Article for general public
  Norsk (2016) - PRINTO/PRES
  
  Français (2016) - PRINTO/PRES
  
  עברית (2016) - PRINTO/PRES
  
  Polski (2016) - PRINTO/PRES
  
  Latviešu (2016) - PRINTO/PRES
  
  Deutsch (2016) - PRINTO/PRES
  
  Українська (2016) - PRINTO/PRES
  
  Ελληνικά (2016) - PRINTO/PRES
  
  English (2016) - PRINTO/PRES
  
  Español (2016) - PRINTO/PRES
  
  Nederlands (2016) - PRINTO/PRES
  
  Türkçe (2016) - PRINTO/PRES
  
  ไทย (2016) - PRINTO/PRES
  
  বাংলা (2016) - PRINTO/PRES
  
  Slovenščina (2016) - PRINTO/PRES
  
  Slovenčina (2016) - PRINTO/PRES
  
  Dansk (2016) - PRINTO/PRES
  
  Српски (2016) - PRINTO/PRES
  
  Čeština (2016) - PRINTO/PRES
  
  Русский (2016) - PRINTO/PRES
  
  Hrvatski (2016) - PRINTO/PRES
  
  中文 (2016) - PRINTO/PRES
  
  Română (2016) - PRINTO/PRES
  
  Magyar (2016) - PRINTO/PRES
  
  Italiano (2016) - PRINTO/PRES
  
  العربية (2016) - PRINTO/PRES
  
  Português (2016) - PRINTO/PRES
- Emergency guidelines
  Français (2015.pdf) Arthrite idiopathique juvénile systémique - Orphanet Urgences
- Anesthesia guidelines
  English (2018) - Orphananesthesia
  
  Čeština (2018) - Orphananesthesia
- Clinical practice guidelines
  Français (2017) Pneumopathies interstitielles diffuses de lenfant - PNDS
  
  Français (2019) Fragilités osseuses secondaires de lenfant - PNDS
  
  Français (2024) Arthrites Juvéniles Idiopathiques - PNDS
  
  Français (2017) Arthrites Juvéniles Idiopathiques - PNDS
  
  Deutsch (2019) - AWMF
  
  English (2022) 2021 American College of Rheumatology Guideline for the Treatment of Juvenile Idiopathic Arthritis: Therapeutic Approaches for Oligoarthritis, Temporomandibular Joint Arthritis, and Systemic Juvenile Idiopathic Arthritis - Arthritis Rheumatol
  
  Español (2020.pdf) - Asoc Española de Pediatría
- Disability factsheet
  Français (2018.pdf) - Orphanet
- Diagnostic Keys
  Français (2022) Arthrite - Les clés du diagnostic
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM
Sézary syndrome
- Review article
  English (2017) - PDQ Cancer Inf Sum
- Patient-Centered Outcome Measures (PCOMs)
  English (2023) - PROQOLID^TM

Knowledge on rare diseases and orphan drugs

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ALPHABETICAL LIST

ALPHABETICAL LIST

ORPHANET USER SATISFACTION SURVEY 2025