| Term Name: | Charcot-Marie-Tooth disease type 4E | 
|---|---|
| Synonyms: | autosomal recessive congenital hypomyelinating or amyelinating neuropathy, Charcot-Marie-Tooth neuropathy type 4E, CMT4E, Neuropathy, congenital hypomyelinating, 1 | 
| Definition: | A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. | 
| Ontology: | Human Disease [DOID:0110195] ( DOID:0110195 ) |