TCF12-related craniosynostosis
Findings
No curated finding names TCF12-related craniosynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene.
Definition from the Mondo Disease Ontology (MONDO:0014128), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
14 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.
- Bicoronal synostosisHPOHP:0011318
- 25 of 72 reported patients · Congenital onset
- Right unicoronal synostosisHPOHP:0011317
- 18 of 72 reported patients · Congenital onset
- StrabismusHPOHP:0000486
- 11 of 72 reported patients
- Low anterior hairlineHPOHP:0000294
- 9 of 72 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 8 of 72 reported patients
- Dental malocclusionHPOHP:0000689
- 7 of 72 reported patients
- Hallux valgus
Show the remaining 2
- Mild global developmental delayHPOHP:0011342
- 2 of 72 reported patients
- Partial agenesis of the corpus callosumHPOHP:0001338
- 2 of 72 reported patients
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.
- TCF12HGNC:11623
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2021
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: TCF12-related craniosynostosis
- Also called
- craniosynostosis 3craniosynostosis caused by mutation in TCF12craniosynostosis type 3TCF12 craniosynostosis