Charcot-Marie-Tooth disease X-linked dominant 1 (DOID:0110209)
Alliance: disease page
Synonyms: Charcot-Marie-Tooth neuropathy X-linked dominant 1; CMT1X; CMTX1; X-linked Charcot-Marie-Tooth disease type 1
Alt IDs: OMIM:302800, ICD10CM:G60.0, ORDO:101075
Definition: A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.