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Branchio-otic syndrome
3 OMIM references -
2 associated genes
13 connected diseases
18 signs/symptoms
Disease Type of connection
BOR syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Otofaciocervical syndrome
Sensorineural deafness with dilated cardiomyopathy
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Schizencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
EYA1 Q99502601653
SIX1 Q15475601205
Very frequent
- Autosomal dominant inheritance
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Dermoid sinus / dimple / pit (excluding sacral)
- Hearing loss / hypoacusia / deafness

Frequent
- Branchial fistulae of the neck
- Conductive deafness / hearing loss
- External auditory canal atresia / stenosis / agenesis
- External ear anomalies
- Sensorineural deafness / hearing loss
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Structural anomalies of middle ear / ossicles / tympanic cavity

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Defect / anomaly of lacrimal system
- Facial palsy
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Lip pits / fistulae
- Micrognathia / retrognathia / micrognathism / retrognathism
- Preauricular / branchial tags / appendages