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Metadata
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

MIM:618800

Synonyms

SCAR28 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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