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microcephaly and chorioretinopathy 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly and chorioretinopathy 1

MONDO:0009624

Also known as:Pseudotoxoplasmosis syndromeTUBGCP6 microcephaly and chorioretinopathyautosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Overview

An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.

GeneticsAutosomal recessive · TUBGCP6 (chr 22)

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: Seizure and Nystagmus. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	8	Abnormality of retinal pigmentation, Retinal detachment, Retinal fold
Brain and nerves

Genetic Landscape

TUBGCP6 function has not been fully characterized.

Microcephaly and chorioretinopathy 1 is caused by mutations in the TUBGCP6 gene on chromosome 22.

Diagnosis

Genetic testing for TUBGCP6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly and chorioretinopathy 1 has been reported in the published literature.

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 1.

212 publications have been identified in PubMed for microcephaly and chorioretinopathy 1. Kisho has analyzed 116 by research type. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (26%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	43	37%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 7:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:251270

Orphanet

European rare disease database

Orphanet:2518

GARD

Genetic and Rare Diseases Info Center

GARD:16603

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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Kisho

microcephaly and chorioretinopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

microcephaly and chorioretinopathy 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications