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Metadata
ID DOID:0080059
Name autosomal recessive spinocerebellar ataxia 7
Definition An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15.
https://ghr.nlm.nih.gov/gene/TPP1, https://www.ncbi.nlm.nih.gov/pubmed/26224725
Xrefs

GARD:12232

OMIM:609270

Subsets

DO_rare_slim

Synonyms

SCAR7 [EXACT]

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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