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Human Disease

autosomal recessive spinocerebellar ataxia 7

Term ID
DOID:0080059
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. (2)
References
Ontology
Human Disease   ( DOID:0080059 )
Relationships
is a type of
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Genes Involved
Zebrafish Models