Hennekam lymphangiectasia-lymphedema syndrome 1

MONDO:0009337

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, HKLLS1, Hennekam lymphangiectasia-lymphedema syndrome, lymphatic dysplasia, generalised, lymphatic dysplasia, generalized

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