PRPS1 deficiency disorder
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:0020127
hereditary peripheral neuropathy
is_a
PRPS1 deficiency disorder
exact
PRPS1-related CMTX5/Arts syndrome/XLNSHL
exact