MARINESCO-SJOEGREN SYNDROME: SPINOCEREBELLAR ATAXIA, CONGENITAL CATARACT,  SOMATIC AND MENTAL RETARDATION.
D000293:Adolescent; D000596:Amino Acids; D002386:Cataract; D002648:Child; D002845:Chromatography; D003937:Diagnosis, Differential; D005621:Friedreich Ataxia; D006801:Humans; D008607:Intellectual Disability; D009664:Norway; D009759:Nystagmus, Pathologic; D020754:Spinocerebellar Ataxias; D013285:Strabismus; D014556:Urine
D000596:Amino Acids
ADOLESCENCE; AMINO ACIDS; CATARACT; CHILD; CHROMATOGRAPHY; DIAGNOSIS, DIFFERENTIAL; FRIEDREICH'S ATAXIA; MENTAL RETARDATION; NORWAY; NYSTAGMUS; STRABISMUS; URINE