Term Name: | autosomal recessive spinocerebellar ataxia 7 |
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Synonyms: | SCAR7 |
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. |
Ontology: | Human Disease [DOID:0080059] ( DOID:0080059 ) |