DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive spinocerebellar ataxia 21

Autosomal recessive spinocerebellar ataxia 21 [DOID:0111155]

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

Synonyms:  autosomal recessive spinocerebellar ataxia 21,  DOID:0111155,  acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome,  autosomal recessive spinocerebellar ataxia 21 with hepatopathy,  SCAR21 ...