Term Name: | autosomal recessive spinocerebellar ataxia 34 |
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Synonyms: | CAMRQ syndrome 3, CAMRQ3, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3, cerebellar ataxia, mental retardation, and disequilibrium syndrome 3, SCAR34, spinocerebellar ataxia, autosomal recessive 34 |
Definition: | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. |
Ontology: | Human Disease [DOID:0070558] ( DOID:0070558 ) |