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

• GARD:12232
• OMIM:609270

Ontology

Human Disease   ( DOID:0080059 )