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10q22.3q23.3 microduplication syndrome

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Description

A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.

SNOMEDCT_US

  • Mode of Inheritance

    VARIANTS

    0

    Genes

      External Links

      • OMIM
      • Orphanet

        276422

      • HPO
      • Medgen

        C5190512

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