| Term Name: | Charcot-Marie-Tooth disease type 4B1 |
|---|---|
| Synonyms: | autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1, Charcot-Marie-Tooth neuropathy type 4B1, CMT4B1 |
| Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). |
| Ontology: | Human Disease [DOID:0110191] ( DOID:0110191 ) |