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megalocornea-intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megalocornea-intellectual disability syndrome

MONDO:0009577

Also known as:MMR syndromeNeuhC$user syndromeNeuhäuser syndrome

Overview

Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.

GeneticsAutosomal recessive

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 always present findings: Megalocornea; and common findings: Iris transillumination defect and Corneal arcus. 42 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Cerebral cortical atrophy, Seizure, Ataxia

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 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 megalocornea-intellectual disability syndrome.

300 publications have been identified in PubMed for megalocornea-intellectual disability syndrome. Kisho has analyzed 150 by research type. Research spans Review / Meta-Analysis (37%), Epidemiology / Natural History (23%), and Case Report / Case Series (16%).

Research Type	Count	% of Total
Research summaries	56	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:249310

Orphanet

European rare disease database

Orphanet:2479

GARD

Genetic and Rare Diseases Info Center

GARD:3448

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

megalocornea-intellectual disability 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

megalocornea-intellectual disability 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