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Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

rare

An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.

Identifiers
MONDO:0014744 OMIM:616719Orphanet:466794
Causal genes
SCYL1
Part of
Acute diseaseAutosomal recessive syndromic cerebellar ataxiaSyndromic disease
Also known as
autosomal recessive spinocerebellar ataxia type 21 · SCAR21 · spinocerebellar ataxia, autosomal recessive 21 · spinocerebellar ataxia, autosomal recessive type 21

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