ODCs

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2 OMIM references -
3 associated genes
17 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12

3 OMIM references -
2 associated genes
18 signs/symptoms

BOR syndrome

Branchio-otic syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EYA1	(1)	SIX1

Citations in the biomedical literature:

BOR syndrome		Branchio-otic syndrome
	Synonym(s): - Branchiootorenal syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease - Rare renal disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 2 OMIM references - 1 MeSH reference: D019280		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Defect / anomaly of lacrimal system - External auditory canal atresia / stenosis / agenesis - External ear anomalies - Facial palsy - Hearing loss / hypoacusia / deafness - Micrognathia / retrognathia / micrognathism / retrognathism - Preauricular / branchial tags / appendages - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Structural anomalies of middle ear / ossicles / tympanic cavity

BOR syndrome		Branchio-otic syndrome
	Frequent - Agenesis / hypoplasia / aplasia of kidneys Occasional - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Multicystic kidney / renal dysplasia - Renal failure - Vesicorenal / vesicoureteral reflux		Very frequent - Dermoid sinus / dimple / pit (excluding sacral) Frequent - Branchial fistulae of the neck - Conductive deafness / hearing loss - Sensorineural deafness / hearing loss Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Lip pits / fistulae