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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebellar ataxia, mental retardation and dysequlibrium syndrome
Summary
- Synonym
-
- CAMRQ
- Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
- Uner Tan syndrome
- VLDLR Cerebellar Hypoplasia
- Definition
- An syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050997
- Mondo Disease Ontology
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 126 | ADH1C | alcohol dehydrogenase 1C (class I), gamma polypeptide | |
| 3290 | HSD11B1 | hydroxysteroid 11-beta dehydrogenase 1 | |
| 5311 | PKD2 | polycystin 2, transient receptor potential cation channel | |
| 5589 | PRKCSH | PRKCSH beta subunit of glucosidase II | |
| 6440 | SFTPC | surfactant protein C | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| P00326 | Alcohol dehydrogenase 1C | |
| P14314 | Glucosidase 2 subunit beta | |
| P28845 | 11-beta-hydroxysteroid dehydrogenase 1 | |
| Q13563 | Polycystin-2 |
