Human genes for Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 1 [DOID:0110209]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13.
Synonyms: Charcot-Marie-Tooth disease X-linked dominant 1, CharcotMarieTooth disease Xlinked dominant 1, DOID:0110209, Charcot-Marie-Tooth neuropathy X-linked dominant 1, CMT1X ...