Variants
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4p partial monosomy syndrome

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Description

Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Sporadic

VARIANTS

6

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Genes

External Links

  • OMIM

    194190

  • Orphanet

    280

  • HPO
  • Medgen

    C1956097

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