Charcot-Marie-Tooth disease type 2A1 (DOID:0110154)
Alliance: disease page
Synonyms: autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease neuronal type 2A1; Charcot-Marie-Tooth neuropathy type 2A1; CMT2A1; hereditary motor and sensory neuropathy IIA1; HMSN2A1; HMSN IIA1
Alt IDs: OMIM:118210, ICD10CM:G60.0, ORDO:99946
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36.