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Hennekam lymphangiectasia lymphedema syndrome [Supplementary Concept]

A hereditary autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the INTESTINAL TRACT; PERICARDIUM; and limbs. Additional features may include facial dysmorphism, cognitive impairment, and CRYPTORCHIDISM in affected males. Mutations in the CCBE1 gene have been identified. OMIM: 235510

Date introduced: August 25, 2010

MeSH Unique ID: C537255

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Entry Terms:

  • Hennekam Lymphangiectasia-Lymphedema Syndrome
  • Lymphangiectasies and lymphedema Hennekam type
  • Lymphatic Dysplasia, Generalized

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