Hennekam lymphangiectasia-lymphedema syndrome 2

Definition

Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene.

Also known as FAT4 Hennekam syndrome, Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome type 2, Hennekam syndrome caused by mutation in FAT4 — per MONDO

Also identified as

• OMIM 616006 per MONDO
• UMLS C4014939 per MONDO