/acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

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

Rare Disease

MONDO:0014744

Also Known As

SCAR21acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeautosomal recessive spinocerebellar ataxia 21 with hepatopathyautosomal recessive spinocerebellar ataxia type 21spinocerebellar ataxia, autosomal recessive 21spinocerebellar ataxia, autosomal recessive type 21autosomal recessive spinocerebellar ataxia 21spinocerebellar ataxia, autosomal recessive 21, with hepatopathy

Definition

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