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Charcot-Marie-Tooth disease type 2Y
Summary
- Synonym
-
- CMT2 due to VCP mutation
- CMT2Y
- Charcot-Marie-Tooth neuropathy type 2Y
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
- autosomal dominant axonal Charcot-Marie-Tooth type 2Y
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110168
- Mondo Disease Ontology
- ORDO
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002141 | Gait imbalance |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002354 | Memory impairment |
| HP:0002355 | Difficulty walking |
| HP:0002359 | Frequent falls |
| HP:0002460 | Distal muscle weakness |
| HP:0002936 | Distal sensory impairment |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0003376 | Steppage gait |
