Search Ontology:
Human Disease
autosomal recessive spinocerebellar ataxia 7
- Term ID
- DOID:0080059
- Synonyms
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- 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. (2)
- References
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- GARD:12232
- MIM:609270
- Ontology
- Human Disease ( DOID:0080059 )
- is a type of
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Genes Involved
Zebrafish Models