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microcephaly and chorioretinopathy 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly and chorioretinopathy 2

MONDO:0014516

Also known as:PLK4 microcephaly and chorioretinopathymicrocephaly and chorioretinopathy caused by mutation in PLK4microcephaly and chorioretinopathy type 2

Overview

Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.

GeneticsAutosomal recessive · PLK4 (chr 4)

ResearchLimited published research (9 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: Short stature, Intellectual disability, and Microcephaly; and common findings: Absent speech. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	6	Cataract, Macular atrophy, Damage to the optic nerve (optic atrophy)

Genetic Landscape

PLK4 function has not been fully characterized.

Microcephaly and chorioretinopathy 2 is associated with mutations in the PLK4 gene on chromosome 4.

Diagnosis

Genetic testing for PLK4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 common 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 microcephaly and chorioretinopathy 2.

9 publications have been identified in PubMed for microcephaly and chorioretinopathy 2. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (11%).

Recent Publications

Helms M (2026). [PMID: 41565369](https://pubmed.ncbi.nlm.nih.gov/41565369/). *Ophthalmic Genet*. [Review / Meta-Analysis]
Das A (2026). [PMID: 41068583](https://pubmed.ncbi.nlm.nih.gov/41068583/). *Ophthalmic Genet*. [Case Report / Case Series]
Apuhan T (2025). [PMID: 41200571](https://pubmed.ncbi.nlm.nih.gov/41200571/). *Balkan J Med Genet*. [Case Report / Case Series]
Matsuki T (2025). [PMID: 39851490](https://pubmed.ncbi.nlm.nih.gov/39851490/). *Cells*. [Basic Science / Preclinical]
Mishra AV (2025). [PMID: 39803728](https://pubmed.ncbi.nlm.nih.gov/39803728/). *Ophthalmic Genet*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616171

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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