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Metadata
ID DOID:0111155
Name autosomal recessive spinocerebellar ataxia 21
Definition An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.
https://www.ncbi.nlm.nih.gov/pubmed/26581903
Xrefs

OMIM:616719

ORDO:466794

Synonyms

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

autosomal recessive spinocerebellar ataxia 21 with hepatopathy [EXACT]

SCAR21 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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