Charcot-Marie-Tooth disease axonal type 2H (DOID:0110166)
Alliance: disease page
Synonyms: AR-CMT2C; autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features; autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features; Autosomal recessive axonal CMT4C2; Axonal Charcot-Marie-Tooth disease with pyramidal involvement; Charcot-Marie-Tooth disease type 2H; CMT2H
Alt IDs: OMIM:607731, ICD10CM:G60.0, ORDO:101102
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23.