Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

What is Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome?

Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is 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.

Other condition names

  • Levic-Stefanovic-Nikolic syndrome

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
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