Human genes for Charcot-Marie-Tooth disease X-linked recessive 5
Charcot-Marie-Tooth disease X-linked recessive 5 [DOID:0110210]
A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22.
Synonyms: Charcot-Marie-Tooth disease X-linked recessive 5, CharcotMarieTooth disease Xlinked recessive 5, DOID:0110210, Charcot-Marie-Tooth neuropathy X-linked recessive 5, CMT5X ...