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autosomal recessive spinocerebellar ataxia 18
Summary
- Synonym
-
- SCAR18
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0080042
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43424 | Glutamate receptor ionotropic, delta-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61625 | Glutamate receptor ionotropic, delta-2 |
