Charcot-Marie-Tooth disease type 5; optic atrophy-polyneuropathy-deafness; Rosenberg-Chutorian syndrome (CMT5)

Introduction

Also see Charcot-Marie-Tooth disease

Genetics

• X-linked recessive
• associated with defects in PRPS1

More general terms

• Charcot-Marie-Tooth disease

Database

• OMIM: https://mirror.omim.org/entry/311070