Human genes for Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2Q [DOID:0110170]
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Synonyms: Charcot-Marie-Tooth disease axonal type 2Q, CharcotMarieTooth disease axonal type 2Q, DOID:0110170, autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q, autosomal dominant Charcot-Marie-Tooth disease type 2Q ...