Hennekam lymphangiectasia-lymphedema syndrome 1

Definition

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.

Also known as CCBE1 Hennekam syndrome, Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome type 1, Hennekam syndrome caused by mutation in CCBE1 — per MONDO

Also identified as

• OMIM 235510 per MONDO
• UMLS C4012050 per MONDO