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macrocephaly/megalencephaly syndrome, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

macrocephaly/megalencephaly syndrome, autosomal recessive

MONDO:0009544

Also known as:Fryns Dereymaeker Haegeman syndromeMGCPHintellectual disability, macrocephaly, short stature and craniofacial dysmorphism

Overview

GeneticsAutosomal recessive · TBC1D7 (chr 6)

ResearchLimited published research (3 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: Mild intellectual disability, Calcium oxalate nephrolithiasis, Broad forehead, and Macrocephaly and others; and common findings: Scaphocephaly, Strabismus, and Genu valgum. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Mild intellectual disability, Depression, Hydrocephalus

Genetic Landscape

TBC1D7 function has not been fully characterized.

Macrocephaly/megalencephaly syndrome, autosomal recessive is associated with mutations in the TBC1D7 gene on chromosome 6.

Diagnosis

Genetic testing for TBC1D7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 3 common features.

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 macrocephaly/megalencephaly syndrome, autosomal recessive.

3 publications have been identified in PubMed for macrocephaly/megalencephaly syndrome, autosomal recessive. Research spans Other (33%), Case Report / Case Series (33%), and Gene Therapy / Novel Therapeutics (33%).

Recent Publications

Gibson WT (2025). [PMID: 39964768](https://pubmed.ncbi.nlm.nih.gov/39964768/). *Hum Gene Ther*. [Gene Therapy / Novel Therapeutics]
Politano D (2025). [PMID: 40725455](https://pubmed.ncbi.nlm.nih.gov/40725455/). *Genes (Basel)*. [Other]
Okamoto N (2024). [PMID: 38814056](https://pubmed.ncbi.nlm.nih.gov/38814056/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 10:39 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:248000

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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macrocephaly/megalencephaly syndrome, autosomal recessive

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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