craniofacial microsomia 1
MONDO:0958175Mondo
Findings
No curated finding names craniofacial microsomia 1 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
20 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.
- Facial asymmetryHPOHP:0000324
- 6 of 8 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 5 of 8 reported patients
- Preauricular skin tagHPOHP:0000384
- 5 of 8 reported patients
- Cervical ribsHPOHP:0000891
- 3 of 8 reported patients
- MicrotiaHPOHP:0008551
- 3 of 8 reported patients
- Mild global developmental delayHPOHP:0011342
- 3 of 8 reported patients
- Transverse facial cleftHPOHP:0100731
- 3 of 8 reported patients · Congenital onset
- Duplicated tragusHPOHP:0011270
- 2 of 8 reported patients
- Maxillozygomatic hypoplasiaHPOHP:0005439
- 2 of 8 reported patients
- PtosisHPOHP:0000508
- 2 of 8 reported patients
- StrabismusHPOHP:0000486
- 2 of 8 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 8 reported patients
Show the remaining 8
- Atresia of the external auditory canalHPOHP:0000413
- 1 of 8 reported patients
- Genu valgumHPOHP:0002857
- 1 of 8 reported patients
- Partial duplication of thumb phalanxHPOHP:0009944
- 1 of 8 reported patients · Congenital onset
- Right aortic archHPOHP:0012020
- 1 of 8 reported patients
- ScoliosisHPOHP:0002650
- 1 of 8 reported patients
- Underdeveloped tragusHPOHP:0011272
- 1 of 8 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.
- SF3B2HGNC:10769
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of