Metadata | |
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ID | DOID:0111618 |
Name | autosomal recessive spinocerebellar ataxia 8 |
Definition | An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. https://www.ncbi.nlm.nih.gov/pubmed/17159980, https://www.ncbi.nlm.nih.gov/pubmed/27086870 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ARCA1 [EXACT] autosomal recessive ataxia, Beauce type [EXACT] Autosomal recessive cerebellar ataxia type 1 [EXACT] recessive ataxia of Beauce [EXACT] SCAR8 [EXACT] SYNE1-related autosomal recessive cerebellar ataxia [EXACT] |
Parent Relationships |