Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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.
Hennekam syndrome
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Hennekam lymphangiectasia-lymphedema syndrome 1
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Hennekam lymphangiectasia-lymphedema syndrome 2
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FAT4
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Hennekam lymphangiectasia-lymphedema syndrome 3
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| 1. |
Hennekam RC et al. (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. 
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| 2. |
Al-Gazali LI et al. (2003) Further delineation of Hennekam syndrome.
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| 3. |
Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.
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| 4. |
Orphanet article Orphanet ID 79383
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| 5. |
OMIM.ORG article Omim 616006
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