Charcot-Marie-Tooth disease axonal type 2K (DOID:0110167)
Alliance: disease page
Synonyms: ARCMT2K; autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K; autosomal recessive axonal Charcot-Marie-Tooth disease type 2K; autosomal recessive axonal CMT4C4; autosomal recessive Charcot-Marie-Tooth disease with hoarseness; Charcot-Marie-Tooth neuropathy axonal type 2K
Alt IDs: OMIM:607831, ICD10CM:G60.0, ORDO:101097
Definition: A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q.