PRPS1 - Phosphoribosyl pyrophosphate synthetase 1
|
|
Diseases list
- Disease-causing germline mutation(s) in Lethal ataxia with deafness and optic atrophy
- Disease-causing germline mutation(s) in Phosphoribosylpyrophosphate synthetase superactivity
- Disease-causing germline mutation(s) in X-linked Charcot-Marie-Tooth disease type 5
- Disease-causing germline mutation(s) in X-linked nonsyndromic sensorineural deafness type DFN
Assessed
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
