Charcot-Marie-Tooth disease recessive intermediate D (DOID:0110203)
Alliance: disease page
Synonyms: autosomal recessive intermediate Charcot-Marie-Tooth disease type D; CMTRID; RI-CMT type D
Alt IDs: OMIM:616039, ICD10CM:G60.0, ORDO:435998
Definition: A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24.