Cerebellar ataxia, polydactyly, syndactyly and aminoaciduria.
D000328:Adult; D000596:Amino Acids / Q000652:urine*; D002524:Cerebellar Ataxia / Q000150:complications*; D006801:Humans; D008297:Male; D013576:Syndactyly / Q000150:complications*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
D000596:Amino Acids