craniofacial microsomia 2
MONDO:0958194Mondo
Findings
No curated finding names craniofacial microsomia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- MicrotiaHPOHP:0008551
- 10 of 10 reported patients
- Microtia, third degreeHPOHP:0011267
- 8 of 10 reported patients
- MicrognathiaHPOHP:0000347
- 3 of 10 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 10 reported patients
- Dermal sinus tractHPOHP:0020223
- 1 of 10 reported patients
- Microtia, first degreeHPOHP:0011266
- 1 of 10 reported patients
- Microtia, second degreeHPOHP:0008569
- 1 of 10 reported patients
- Skin tagsHPOHP:0010609
- 1 of 10 reported patients
- Submucous cleft palateHPOHP:5201016
- 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.
- FOXI3HGNC:35123
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of