A new HGPRT-deficient phenotype?
D000293:Adolescent; D006147:Guanine; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D010430:Pentosyltransferases / Q000378:metabolism*; D010641:Phenotype; D012640:Seizures / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D014527:Uric Acid / Q000097:blood
D007042:Hypoxanthines; D014527:Uric Acid; D006147:Guanine; D010430:Pentosyltransferases