parietal foramina 1
MONDO:0008197Mondo
Findings
No curated finding names parietal foramina 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0008197), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Blue scleraeHPOHP:0000592
- 1 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 10 reported patients
- Wormian bonesHPOHP:0002645
- 1 of 10 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.
- MSX2HGNC:7392
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: parietal foramina 1
- Also called
- MSX2 parietal foraminaparietal foramina caused by mutation in MSX2