Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
SCAR7 [EXACT] |
Parent Relationships |