Marinesco-Sjogren syndrome with myopathy.
D000015:Abnormalities, Multiple / Q000150:complications*; D001766:Blindness / Q000150:complications; D002386:Cataract / Q000151:congenital; D002524:Cerebellar Ataxia / Q000150:complications* / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000150:complications; D025063:Chromosome Disorders; D004576:Electromyography; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D009133:Muscular Atrophy; D009135:Muscular Diseases / Q000150:complications* / Q000235:genetics