ODCs

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3 OMIM references -
2 associated genes
18 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5

2 OMIM references -
2 associated genes
22 signs/symptoms

Branchio-otic syndrome

Otofaciocervical syndrome

EYA1	(UniProt - OMIM)		EYA1	(UniProt - OMIM)
SIX1	(UniProt - OMIM)		PAX1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Branchio-otic syndrome		Otofaciocervical syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Fara-Chlupackova syndrome - OFC syndrome

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

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

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

	External references: 3 OMIM references - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Conductive deafness / hearing loss - External auditory canal atresia / stenosis / agenesis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy

Branchio-otic syndrome		Otofaciocervical syndrome
	Very frequent - Dermoid sinus / dimple / pit (excluding sacral) - Hearing loss / hypoacusia / deafness Frequent - Branchial fistulae of the neck - 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 - Lip pits / fistulae - Micrognathia / retrognathia / micrognathism / retrognathism - Preauricular / branchial tags / appendages		Very frequent - Abnormal dermatoglyphics - Anteverted nares / nostrils - Broad cheeks / cherub-like / cherubin face - Clavicle absent / abnormal - Depressed nasal bridge - High vaulted / narrow palate - Hypereflexia - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / large ear - Prominent / bat ears - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Antihelix anomaly - Delayed bone age Occasional - Agenesis / hypoplasia / aplasia of kidneys