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microcephaly and chorioretinopathy 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly and chorioretinopathy 3

MONDO:0014592

Also known as:TUBGCP4 microcephaly and chorioretinopathymicrocephaly and chorioretinopathy caused by mutation in TUBGCP4microcephaly and chorioretinopathy type 3

Overview

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.

GeneticsAutosomal recessive · TUBGCP4 (chr 15)

ResearchLimited published research (4 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 sometimes findings: Abnormal facial shape. 8 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Microcephaly, Abnormal facial shape
Eyes

Genetic Landscape

TUBGCP4 function has not been fully characterized.

Microcephaly and chorioretinopathy 3 is associated with mutations in the TUBGCP4 gene on chromosome 15.

Diagnosis

Genetic testing for TUBGCP4 is available. Testing is considered confirmatory for diagnosis.

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 and chorioretinopathy 3.

4 publications have been identified in PubMed for microcephaly and chorioretinopathy 3. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

Helms M (2026). [PMID: 41565369](https://pubmed.ncbi.nlm.nih.gov/41565369/). *Ophthalmic genetics*. [Review / Meta-Analysis]
Ogmen K (2026). [PMID: 41427784](https://pubmed.ncbi.nlm.nih.gov/41427784/). *JCI insight*. [Basic Science / Preclinical]
Flor S (2025). [PMID: 40791429](https://pubmed.ncbi.nlm.nih.gov/40791429/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
van der Ende S (2025). [PMID: 39918476](https://pubmed.ncbi.nlm.nih.gov/39918476/). *Investigative ophthalmology & visual science*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616335

GARD

Genetic and Rare Diseases Info Center

GARD:18482

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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microcephaly and chorioretinopathy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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