You are using an outdated browser. Please upgrade your browser to improve your experience.

PRPS1 deficiency disorder

Disease Summary
Associated Targets ()

Mondo Description A peripheral neuropathy that is characterized by variants in PRPS1, which causes decreased or impaired function of the PRPS1 enzyme, and presents as a range of peripheral neuropathies that can include features of Charcot-Marie Tooth syndrome, Arts syndrome, or nonsyndromic hearing loss.
Mondo Term and Equivalent IDs
MONDO:0100061:  PRPS1 deficiency disorder