Lesch-Nyhan variant: dystonia, ataxia, near-normal intelligence, and no self-mutilation.
Adler
C H
CH
Department of Neurology, Graduate Hospital, University of Pennsylvania, Philadelphia, USA.
Wrabetz
L
L
D000328:Adult; D002819:Chorea; D004421:Dystonia; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007360:Intelligence; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis*; D008297:Male; D018482:Muscle, Skeletal / Q000503:physiopathology; D009133:Muscular Atrophy / Q000503:physiopathology; D014743:Videotape Recording; D014960:X Chromosome
D007041:Hypoxanthine Phosphoribosyltransferase