. . . . . . . . . . . . "[A syndrome has been observed in a kindred with deficient activity of hypoxanthine-guanine phosphoribosyltransferase in which affected hemizygotes have had mild mental retardation, a spastic gait, pyramidal tract signs, shortness of stature, proximally placed thumbs and clinodactyly of the fifth fingers.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2014-02-25"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2014-10-02T12:41:26+02:00"^^ . . . . . . . . . . . "v2.1.0.0" . "v2.1.0" .