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Charcot-Marie-Tooth disease type 4B1
Summary
- Synonym
-
- CMT4B1
- Charcot-Marie-Tooth neuropathy type 4B1
- autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2).
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110191
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
- WikiPathways (from TogoID)
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003693 | Distal amyotrophy |
| HP:0002460 | Distal muscle weakness |
| HP:0007208 | Irregular myelin loops |
| HP:0001270 | Motor delay |
| HP:0004336 | Myelin outfoldings |
| HP:0002936 | Distal sensory impairment |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0001762 | Talipes equinovarus |
