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megalencephaly, autosomal dominant - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

megalencephaly, autosomal dominant

MONDO:0007961

Overview

GeneticsAutosomal dominant

ResearchLimited published research (8 articles)

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: Megalencephaly; and sometimes findings: Hydrocephalus and Intellectual disability. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	2	Hydrocephalus, Intellectual disability

Prognosis

Phenotype severity distribution: 1 always present feature.

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 megalencephaly, autosomal dominant.

8 publications have been identified in PubMed for megalencephaly, autosomal dominant. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (13%).

Recent Publications

Prasanna S (2026). [PMID: 41717942](https://pubmed.ncbi.nlm.nih.gov/41717942/). *Indian Dermatol Online J*. [Review / Meta-Analysis]
Raski CR (2026). [PMID: 41216843](https://pubmed.ncbi.nlm.nih.gov/41216843/). *Am J Med Genet A*. [Review / Meta-Analysis]
Furuta Y (2025). [PMID: 41407309](https://pubmed.ncbi.nlm.nih.gov/41407309/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Graziani L (2025). [PMID: 39614649](https://pubmed.ncbi.nlm.nih.gov/39614649/). *Clin Genet*. [Case Report / Case Series]
Zhou F (2025). [PMID: 40581913](https://pubmed.ncbi.nlm.nih.gov/40581913/). *Prenat Diagn*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 2:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:155350

Questions for Your Care Team

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megalencephaly, autosomal dominant

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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