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4q25 proximal deletion syndrome

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Description

A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.

ORDO

  • Mode of Inheritance

    VARIANTS

    0

    Genes

      External Links

      • OMIM
      • Orphanet

        502437

      • HPO
      • Medgen

        CN258658

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