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BOR syndrome
2 OMIM references -
3 associated genes
16 connected diseases
17 signs/symptoms
Disease Type of connection
Branchio-otic syndrome
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Otofaciocervical syndrome
Spinocerebellar ataxia type 1
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
Trichothiodystrophy
Xeroderma pigmentosum complementation group B
Synonym(s):
- Branchiootorenal syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare renal disease
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
External references:
2 OMIM references -
1 MeSH reference: D019280
Gene symbol UniProt reference OMIM reference
EYA1 Q99502601653
SIX1 Q15475601205
SIX5 Q8N196600963
Very frequent
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness

Frequent
- Agenesis / hypoplasia / aplasia of kidneys
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- External ear anomalies
- Preauricular / branchial tags / appendages
- 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
- External auditory canal atresia / stenosis / agenesis
- Facial palsy
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Micrognathia / retrognathia / micrognathism / retrognathism
- Multicystic kidney / renal dysplasia
- Renal failure
- Vesicorenal / vesicoureteral reflux