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8q24.3 microdeletion syndrome

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Description

Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

17

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Genes

External Links

  • OMIM

    615583

  • Orphanet

    508488

  • HPO
  • Medgen

    C3810023

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