| Metadata | |
|---|---|
| ID | DOID:0111617 |
| Name | autosomal recessive spinocerebellar ataxia 6 |
| Definition | An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. https://www.ncbi.nlm.nih.gov/pubmed/12811539, https://www.ncbi.nlm.nih.gov/pubmed/4003033 |
| Xrefs |
SNOMEDCT_US_2023_03_01:785300001 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spinocerebellar ataxia type 6 [EXACT] infantile-onset autosomal recessive nonprogressive cerebellar ataxia [EXACT] SCAR6 [EXACT] |
| Parent Relationships |