Term Name: | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 |
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Synonyms: | CAMRQ syndrome 4, CAMRQ4, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4, cerebellar ataxia, mental retardation, and disequilibrium syndrome 4, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 |
Definition: | A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. |
Ontology: | Human Disease [DOID:0070559] ( DOID:0070559 ) |