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Charcot-Marie-Tooth disease type 5; optic atrophy-polyneuropathy-deafness; Rosenberg-Chutorian syndrome (CMT5)
Also see Charcot-Marie-Tooth disease
Genetics:
1) X-linked recessive
2) associated with defects in PRPS1
Database Correlations
OMIM 311070
References
OMIM :accession 311070