X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.
D000493:Allopurinol / Q000627:therapeutic use; D001264:Athetosis / Q000209:etiology; D002648:Child; D005808:Genes, Recessive; D006150:Guanine Nucleotides; D006801:Humans; D007042:Hypoxanthines; D008607:Intellectual Disability / Q000201:enzymology / Q000209:etiology*; D008124:Locomotion; D008297:Male; D009461:Neurologic Manifestations; D011187:Posture; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D012652:Self Mutilation; D012730:Sex Chromosomes; D013064:Speech Disorders / Q000209:etiology; D014166:Transferases / Q000378:metabolism*; D014527:Uric Acid / Q000097:blood*
D006150:Guanine Nucleotides; D007042:Hypoxanthines; D014527:Uric Acid; D000493:Allopurinol; D014166:Transferases