ODCs

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3 OMIM references -
2 associated genes
18 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Branchio-otic syndrome

Sensorineural deafness with dilated cardiomyopathy

EYA1	(UniProt - OMIM)		EYA4	(UniProt - OMIM)
SIX1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SIX1	(0.74)	EYA4

Citations in the biomedical literature:

Branchio-otic syndrome		Sensorineural deafness with dilated cardiomyopathy
	Synonym(s): (no synonyms)		Synonym(s): - Neurosensory deafness with dilated cardiomyopathy - Neurosensory hearing loss with dilated cardiomyopathy - Sensorineural hearing loss with dilated cardiomyopathy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare cardiac disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: adolescence / young Average age of death: - Type of inheritance: autosomal dominant

	External references: 3 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references

Branchio-otic syndrome
	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
Sensorineural deafness with dilated cardiomyopathy
(no data available)