microcephaly and chorioretinopathy 3
Findings
No curated finding names microcephaly and chorioretinopathy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014592), read 2026-09-29. CC BY 4.0.
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Chorioretinal dysplasiaHPOHP:0007731
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TUBGCP4HGNC:16691
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: microcephaly and chorioretinopathy 3
- Also called
- microcephaly and chorioretinopathy caused by mutation in TUBGCP4microcephaly and chorioretinopathy type 3microcephaly and chorioretinopathy, autosomal recessive, type 3TUBGCP4 microcephaly and chorioretinopathy