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GTR Home > Conditions/Phenotypes > Hennekam lymphangiectasia-lymphedema syndrome 2

Hennekam lymphangiectasia-lymphedema syndrome 2

Summary

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (235510). [from OMIM]

Available tests

25 tests are in the database for this condition.

Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDHF14, CDHR11, FAT-J, FATJ, HKLLS2, NBLA00548, VMLDS2, FAT4
    Summary: FAT atypical cadherin 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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