Baraitser-Winter syndrome 1
Findings
No curated finding names Baraitser-Winter syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.
Definition from the Mondo Disease Ontology (MONDO:0009470), read 2026-09-29. CC BY 4.0.
Features
6 features
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.
- EpicanthusHPOHP:0000286
- HypertelorismHPOHP:0000316
- Intellectual disabilityHPOHP:0001249
- Iris colobomaHPOHP:0000612
- PtosisHPOHP:0000508
- Short statureHPOHP:0004322
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.
- ACTBHGNC:132
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: Baraitser-Winter syndrome 1
- Also called
- ACTB Baraitser-Winter cerebrofrontofacial syndromeACTB-related BAFopathyBaraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTBBaraitser-Winter syndrome type 1cerebrofrontofacial syndromeFryns-Aftimos syndrome