Charcot-Marie-Tooth disease axonal type 2Q (DOID:0110170)
Alliance: disease page
Synonyms: autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q; autosomal dominant Charcot-Marie-Tooth disease type 2Q; Charcot-Marie-Tooth neuropathy type 2Q; CMT2Q
Alt IDs: OMIM:615025, ICD10CM:G60.0, ORDO:329258
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.