| Term Name: | Charcot-Marie-Tooth disease type 4B3 |
|---|---|
| Synonyms: | CMT4B3 |
| Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. |
| Ontology: | Human Disease [DOID:0110194] ( DOID:0110194 ) |