Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Definition
An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
Also known as acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia type 21, SCAR21, spinocerebellar ataxia, autosomal recessive 21, spinocerebellar ataxia, autosomal recessive type 21 — per MONDO