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Kelley-Seegmiller syndrome
Epidemiology:
- rare
Genetics:
- results from partial deficiency of hypoxanthine-guanine phosphoribosyl transferase
Clinical manifestations:
- nephrolithiasis
- gout (early onset)
- neurologic symptoms
General
genetic syndrome (multisystem disorder)
References
WrongDiagnosis.com: Kelley-Seegmiller syndrome
http://www.wrongdiagnosis.com/k/kelley_seegmiller_syndrome/intro.htm