Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).
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Synonyms:
bor syndrome; Branchio oto renal syndrome; Branchio-Oto-renal syndrome; Branchio-otorenal dysplasia; branchiootorenal dysplasia; branchiootorenal syndrome; Melnick-Fraser syndrome
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MedGen: MeSH: OMIM: MSeqDR : Genes:
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Disease Causing ClinVar Variants
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