RS1556300621 PRPS1
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Associated Conditions
Retinal dystrophy
Phosphoribosylpyrophosphate synthetase superactivity
Hearing loss
Charcot-Marie-Tooth Neuropathy X
Arts syndrome
Retinal dystrophy
Phosphoribosylpyrophosphate synthetase superactivity
Hearing loss
Charcot-Marie-Tooth Neuropathy X
Arts syndrome
Other Variants in PRPS1