Charcot-Marie-Tooth disease type 4C (DOID:0110183)
Alliance: disease page
Synonyms: autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth neuropathy type 4C; CMT4C
Alt IDs: OMIM:601596, ICD10CM:G60.0, ORDO:99949
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene.