Variants
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Heart defect - tongue hamartoma - polysyndactyly syndrome

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Description

A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    217085

  • Orphanet

    1338

  • HPO
  • Medgen

    C1857587

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