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Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Disease definition
A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others.
ORPHA:453521
Classification level: Disorder- Synonym(s):
- SCAR17
- Spinocerebellar ataxia autosomal recessive type 17
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: G11.1
- OMIM: 616127
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
Disease review articles
- Clinical genetics review
- English (2022) - GeneReviews


Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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