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Charcot-Marie-Tooth disease type 4J
Summary
- Synonym
-
- CMT4J
- autosomal recessive Charcot-Marie-Tooth disease type 4J
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110184
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002460 | Distal muscle weakness |
| HP:0006466 | Ankle flexion contracture |
| HP:0001270 | Motor delay |
| HP:0003447 | Axonal loss |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0003383 | Onion bulb formation |
| HP:0003828 | Variable expressivity |
| HP:0001288 | Gait disturbance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003431 | Decreased motor nerve conduction velocity |
