Human genes for autosomal recessive spinocerebellar ataxia 7
Autosomal recessive spinocerebellar ataxia 7 [DOID:0080059]
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.
Synonyms: autosomal recessive spinocerebellar ataxia 7, DOID:0080059