Variants
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Hennekam lymphangiectasia-lymphedema syndrome 3

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Description

Hennekam lymphangiectasia-lymphedema syndrome-3 (HKKLLS3) is characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity (Brouillard et al., 2017). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

3

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Genes

External Links

  • OMIM

    618154

  • Orphanet
  • HPO
  • Medgen

    C4748408

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