Term Name: | autosomal recessive spinocerebellar ataxia 3 |
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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 ) |