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microcephaly-seizures-intellectual disability-heart disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly-seizures-intellectual disability-heart disease syndrome

MONDO:0016719

Also known as:microcephaly seizures intellectual disability heart disordersmicrocephaly seizures mental retardation heart disordersmicrocephaly, seizures, intellectual disability, congenital heart disease, and skeletal abnormalities

Overview

Microcephaly-seizures-intellectual disability-heart disease syndrome is characterized by intellectual deficit, a cardiac anomaly, micropenis, hypothyroidism, epileptic seizures, and skeletal anomalies. It has been described in two males.

Diagnosis

Biomarker and diagnostic research for microcephaly-seizures-intellectual disability-heart disease syndrome has been reported in the published literature.

Prognosis

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 microcephaly-seizures-intellectual disability-heart disease syndrome.

207 publications have been identified in PubMed for microcephaly-seizures-intellectual disability-heart disease syndrome. Kisho has analyzed 136 by research type. Research spans Review / Meta-Analysis (65%), Case Report / Case Series (10%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Research summaries	89

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 10:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2519

GARD

Genetic and Rare Diseases Info Center

GARD:18774

Questions for Your Care Team

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microcephaly-seizures-intellectual disability-heart disease syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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