branchiootorenal syndrome 1
MONDO:0007236Mondo
Findings
No curated finding names branchiootorenal syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
- Preauricular pitHPOHP:0004467
- 12 of 16 reported patients
- Branchial fistulaHPOHP:0009795
- 11 of 16 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 7 of 17 reported patients
- Cupped earHPOHP:0000378
- 6 of 15 reported patients
- Hypoplasia of the cochleaHPOHP:0008586
- 6 of 15 reported patients
- Enlarged vestibular aqueductHPOHP:0011387
- 5 of 15 reported patients
- Branchial cystHPOHP:0009796
- 4 of 16 reported patients
- Mixed hearing impairmentHPOHP:0000410
- 4 of 17 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 2 of 13 reported patients
- MicrotiaHPOHP:0008551
- 2 of 15 reported patients
- Mild global developmental delayHPOHP:0011342
- 2 of 17 reported patients
- Renal dysplasiaHPOHP:0000110
- 1 of 13 reported patients
Show the remaining 4
- Vesicoureteral refluxHPOHP:0000076
- 1 of 13 reported patients
- Gustatory lacrimationHPOHP:0100274
- 1 of 17 reported patients
- High palateHPOHP:0000218
- 1 of 17 reported patients
- Incomplete partition of the cochlea type IIHPOHP:0000376
- 1 of 17 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.
- EYA1HGNC:3519
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: branchiootorenal syndrome 1
- Also called
- branchiootorenal syndrome 1, with or without cataractsbranchiootorenal syndrome type 1