Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Orpha code: 453521OMIM code: 616127

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.

Disease data
Classification

Disease

Synonyms
SCAR17
Ataksja rdzeniowo-móżdżkowa autosomalna recesywna typu 17
SCAR17
Spinocerebellar ataxia autosomal recessive type 17
ORPHA code
453521
OMIM code
616127
ICD10 code
G11.1
ICD11 code
-

No additional description.

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