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ophthalmoplegia-intellectual disability-lingua scrotalis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

MONDO:0008130

Also known as:Levic-Stefanovic-Nikolic syndromeophthalmoplegia, progressive, with scrotal tongue and mental deficiency

Overview

GeneticsAutosomal dominant

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Ptosis, Ophthalmoparesis, Ophthalmoplegia, and Global developmental delay and others; and common findings: Myopia and Facial palsy. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Intellectual disability, Global developmental delay, Specific learning disability

Diagnosis

Biomarker and diagnostic research for ophthalmoplegia-intellectual disability-lingua scrotalis syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 very common features, 2 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ophthalmoplegia-intellectual disability-lingua scrotalis syndrome.

109 publications have been identified in PubMed for ophthalmoplegia-intellectual disability-lingua scrotalis syndrome. Research spans Review / Meta-Analysis (71%), Basic Science / Preclinical (16%), and Epidemiology / Natural History (5%).

Research Type	Count	% of Total
Research summaries	77	71%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:165150

Orphanet

European rare disease database

Orphanet:2743

GARD

Genetic and Rare Diseases Info Center

GARD:3236

Questions for Your Care Team

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Kisho

ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

ophthalmoplegia-intellectual disability-lingua scrotalis syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications