has material basis in germline mutation in PRPS1 Charcot-Marie-Tooth disease X-linked recessive 5 https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/charcot_marie_tooth_disease_x_linked_recessive_5 NORD:1677 MONDO:0010699 Charcot-Marie-Tooth neuropathy X type 5 Orphanet:99014 Charcot-Marie-Tooth neuropathy, X-linked recessive, 5 DOID:0110210 Charcot-Marie-Tooth disease, X-linked recessive, 5, X-linked recessive Rosenberg-Chutorian syndrome Charcot-Marie-Tooth disease, X-linked recessive, 5 GARD:0000114 Charcot-Marie-Tooth disease, X-linked recessive, type 5 X-linked Charcot-Marie-Tooth disease type 5 optic atrophy, sensorineural hearing loss and polyneuropathy UMLS:C1839566 CMT5X familial opticoacoustic nerve degeneration and polyneuropathy MEDGEN:374254 SCTID:763460007 OMIM:311070 Charcot-Marie-Tooth disease X-linked recessive type 5 Rosenberg Chutorian Syndrome optic atrophy, polyneuropathy, and deafness X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype. CMTX5 Charcot-Marie-Tooth disease type X inborn disorder of purine metabolism