| Term Name: | Charcot-Marie-tooth disease axonal type 2MM |
|---|---|
| Synonyms: | CMT2MM |
| Definition: | A Charcot-Marie-Tooth disease type 2 characterized by progressive sensorimotor polyneuropathy with age of onset between the first and fifth decade that has_material_basis_in homozygous or compound heterozygous mutation in the COX18 gene on chromosome 4q13. |
| Ontology: | Human Disease [DOID:0070840] ( DOID:0070840 ) |