acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
MONDO:0002254
syndromic disease
is_a
MONDO:0020047
autosomal recessive syndromic cerebellar ataxia
is_a
MONDO:0020683
acute disease
is_a
SCAR21
exact
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
exact
autosomal recessive spinocerebellar ataxia type 21
exact
spinocerebellar ataxia, autosomal recessive 21
exact
spinocerebellar ataxia, autosomal recessive type 21
exact
SPAC15A10.13