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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 |
|---|---|---|---|
| 7280 | TUBB2A | tubulin beta 2A class IIa | |
| 10381 | TUBB3 | tubulin beta 3 class III | |
| 10382 | TUBB4A | tubulin beta 4A class IVa | |
| 10383 | TUBB4B | tubulin beta 4B class IVb | |
| 81027 | TUBB1 | tubulin beta 1 class VI | |
| 84617 | TUBB6 | tubulin beta 6 class V | |
| 203068 | TUBB | tubulin beta class I | |
| 347733 | TUBB2B | tubulin beta 2B class IIb |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 22151 | Tubb2a | tubulin, beta 2A class IIA | |
| 22152 | Tubb3 | tubulin, beta 3 class III | |
| 22153 | Tubb4a | tubulin, beta 4A class IVA | |
| 22154 | Tubb5 | tubulin, beta 5 class I | |
| 67951 | Tubb6 | tubulin, beta 6 class V | |
| 73710 | Tubb2b | tubulin, beta 2B class IIB | |
| 227613 | Tubb4b | tubulin, beta 4B class IVB |
