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Hennekam lymphangiectasia-lymphedema syndrome 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.
Uniprot Description A form of Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation. HKLLS2 individuals have lymphangiectasia variably affecting the gut, pericardium, lungs, kidneys, and genitalia. Other features include camptodactyly and rare syndactyly.
Mondo Term and Equivalent IDs
MONDO:0014454:  Hennekam lymphangiectasia-lymphedema syndrome 2
UMLS:C4014939: