Charcot-Marie-Tooth disease type 4E (DOID:0110195)
Alliance: disease page
Synonyms: autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth neuropathy type 4E; CMT4E; Neuropathy, congenital hypomyelinating, 1
Alt IDs: OMIM:605253, ICD10CM:G60.0, ORDO:99951
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.