Term Name: autosomal recessive spinocerebellar ataxia 3
Synonyms: autosomal recessive spinocerebellar ataxia type 3, autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome, autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome, SCABD, SCAR3
Definition: An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.
Ontology: Human Disease [DOID:0111612]   ( DOID:0111612 )

Relationships
is a type of: autosomal recessive cerebellar ataxia