CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy
Findings
No curated finding names CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any neurodevelopmental disorder and/or exudative vitreoretinopathy caused by a monoallelic variant in the CTNNB1 gene. Variants in CTNNB1 are related to a neurodevelopmental condition with a broad spectrum of presentations ranging from isolated vitreoretinopathy to a complex neurodevelopmental disorder with mild to severe intellectual disability, microcephaly, spasticity, autism spectrum disorder, and visual defects, including retinal detachment, and abnormal retinal vascularization.
Definition from the Mondo Disease Ontology (MONDO:0100571), read 2026-09-29. CC BY 4.0.
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.
- CTNNB1HGNC:2514
- Definitive · ClinGen · Autosomal dominant · 2024
Where it sits
- A kind of