Charcot-Marie-Tooth disease type 2E (DOID:0110165)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth neuropathy type 2E; CMT2E
Alt IDs: OMIM:607684, ICD10CM:G60.0, ORDO:99939
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21.