phosphoribosylpyrophosphate synthetase deficiency

Findings

No curated finding names phosphoribosylpyrophosphate synthetase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Where it sits

A kind of

• inborn disorder of purine or pyrimidine metabolism
• syndromic disease

Resolves to: phosphoribosylpyrophosphate synthetase deficiency

Also called

deafness hyperuricemia neurologic ataxia