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Melnick-Fraser syndrome

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Description

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).

ORDO

  • Mode of Inheritance

    VARIANTS

    57

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    Genes

      External Links

      • OMIM
      • Orphanet

        107

      • HPO
      • Medgen

        C0265234

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