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Hennekam lymphangiectasia-lymphedema syndrome 2

Hennekam syndrome 2 is an autosomal recessive disorder characterized by lymphedema with lymphangiectasia and intellectual disability. It is caused by mutations of the FAT4 gene.

Systematic

Hennekam syndrome
Hennekam lymphangiectasia-lymphedema syndrome 1
Hennekam lymphangiectasia-lymphedema syndrome 2
FAT4
Hennekam lymphangiectasia-lymphedema syndrome 3

References:

1.

Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation.

external link
2.

Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.

external link
3.

Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.

external link
4.

Orphanet article

Orphanet ID 79383 external link
5.

OMIM.ORG article

Omim 616006 external link
Update: Aug. 14, 2020
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