Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation.
D001259:Ataxia; D002386:Cataract; D002524:Cerebellar Ataxia; D002526:Cerebellar Diseases; D004171:Diploidy; D006801:Humans; D008607:Intellectual Disability; D050035:Sexual Infantilism
ATAXIA; CATARACT; CEREBELLAR DISEASES; INFANTILISM; MENTAL DEFICIENCY