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22q11.2 deletion syndrome

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Description

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

ORDO

  • Mode of Inheritance

    VARIANTS

    0

    Genes

      External Links

      • OMIM
      • Orphanet

        567

      • HPO
      • Medgen

        CN294181

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