Failure to thrive, hyperuricemia, and renal insufficiency in early infancy secondary to partial hypoxanthine-guanine phosphoribosyl transferase deficiency.
D005183:Failure to Thrive / Q000209:etiology*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007223:Infant; D007674:Kidney Diseases / Q000209:etiology* / Q000473:pathology; D007684:Kidney Tubules / Q000473:pathology; D008297:Male; D014527:Uric Acid / Q000097:blood*
D014527:Uric Acid; D007041:Hypoxanthine Phosphoribosyltransferase