Human genes for Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome [DOID:0080195]
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Synonyms: Marinesco-Sjogren syndrome, DOID:0080195, MarinescoSjogren syndrome, Marinesco-Sjogren disease, Marinesco-Sjogren disorder ...