Metadata | |
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ID | DOID:0070409 |
Name | autosomal recessive spinocerebellar ataxia 28 |
Definition | An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. https://pubmed.ncbi.nlm.nih.gov/31168944/ |
Xrefs | |
Synonyms |
SCAR28 [EXACT] |
Parent Relationships |