otofaciocervical syndrome 2
Findings
No curated finding names otofaciocervical syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014254), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
16 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.
- AlacrimaHPOHP:0000522
- 4 of 4 reported patients
- Carious teethHPOHP:0000670
- 4 of 4 reported patients
- Cupped earHPOHP:0000378
- 4 of 4 reported patients
- Lacrimal duct stenosisHPOHP:0007678
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- MicroretrognathiaHPOHP:0000308
- 4 of 4 reported patients
- Mixed hearing impairmentHPOHP:0000410
Show the remaining 4
- Renal cystHPOHP:0000107
- 2 of 4 reported patients
- Scapular wingingHPOHP:0003691
- 2 of 4 reported patients
- Down-sloping shoulderHPOHP:0200021
- 1 of 3 reported patients
- Periorbital dermoid cystHPOHP:0030668
- 1 of 4 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.
- PAX1HGNC:8615
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: otofaciocervical syndrome 2
- Also called
- otofaciocervical syndrome caused by mutation in PAX1otofaciocervical syndrome type 2PAX1 otofaciocervical syndrome