Orphanet: Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

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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: -

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Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

ORPHA:453521

A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)

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