(Q27677674)

English

Charcot-Marie-Tooth disease X-linked recessive 5

Charcot-Marie-Tooth disease X-linked that has material basis in loss-of-function mutation in the PRPS1 gene on chromosome Xq22

  • CMT5X
  • CMTX5
  • Charcot-Marie-Tooth neuropathy X-linked recessive 5
  • Rosenberg-Chutorian syndrome
  • X-linked Charcot-Marie-Tooth disease type 5
  • optic atrophy, polyneuropathy, and deafness
  • CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
  • CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5
  • Charcot-Marie-Tooth Disease, X-Linked Recessive, type 5
  • Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5
  • Charcot-Marie-Tooth disease X-linked recessive type 5

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