otofaciocervical syndrome 1
MONDO:0024532Mondo
Findings
No curated finding names otofaciocervical syndrome 1 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 EYA1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024532), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 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.
- Cupped earHPOHP:0000378
- 1 of 1 reported patient
- Down-sloping shoulderHPOHP:0200021
- 1 of 1 reported patient
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Hypoplasia of the cochleaHPOHP:0008586
- 1 of 1 reported patient
- Long faceHPOHP:0000276
- 1 of 1 reported patient
- Mixed hearing impairmentHPOHP:0000410
- 1 of 1 reported patient
- Narrow faceHPOHP:0000275
Where it sits
- A kind of
Other names
2 names
Resolves to: otofaciocervical syndrome 1
- Also called
- EYA1 otofaciocervical syndromeotofaciocervical syndrome caused by mutation in EYA1