Variants
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Frontometaphyseal dysplasia

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Description

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

ORDO

  • Mode of Inheritance

    VARIANTS

    847

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    Genes

    External Links

    • OMIM
    • Orphanet

      1826

    • HPO
    • Medgen

      C0265293

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