Term Name: | cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 |
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Synonyms: | CAMRQ syndrome 1, CAMRQ1, cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1, cerebellar ataxia, mental retardation, and disequilibrium syndrome 1, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1, cerebellar hypoplasia, VLDLR-associated, DES-VLDLR, dysequilibrium syndrome-VLDLR, VLDLR cerebellar hypoplasia, VLDLR-associated cerebellar hypoplasia, VLDLR-CH |
Definition: | A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. |
Ontology: | Human Disease [DOID:0070556] ( DOID:0070556 ) |