Term Name: | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 |
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Synonyms: | CAMRQ syndrome 2, CAMRQ2, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2, cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 |
Definition: | A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. |
Ontology: | Human Disease [DOID:0070557] ( DOID:0070557 ) |