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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:0006886 | Impaired distal vibration sensation |
| HP:0006944 | Abolished vibration sense |
| HP:0007010 | Poor fine motor coordination |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0007328 | Impaired pain sensation |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0009046 | Difficulty running |
