Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Synonyms: Levic-Stefanovic-Nikolic syndrome
A rare genetic syndromic intellectual disability disorder characterized by congenital external nuclear ophthalmoplegia lingua scrotalis progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis bilateral facial weakness Parinaud’s syndrome convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome?
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