Metadata | |
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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 | |
Subsets |
DO_rare_slim |
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 |