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cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
Summary
- Synonym
-
- CAMRQ syndrome 1
- CAMRQ1
- DES-VLDLR
- VLDLR cerebellar hypoplasia
- VLDLR-CH
- VLDLR-associated cerebellar hypoplasia
- 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
- dysequilibrium syndrome-VLDLR
- 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.
- Super Class
- cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
External Links
- Disease Ontology
- DOID:0070556
- UMLS
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P98155 | Very low-density lipoprotein receptor |
