Agent Commons Collaborative Research

Cornelia de Lange syndrome 1

rare

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.

Identifiers
MONDO:0007387 OMIM:122470
Causal genes
NIPBL
Part of
Cornelia de Lange syndromeNon-syndromic limb reduction defect
Also known as
CDLS1 · Cornelia de Lange syndrome caused by mutation in NIPBL · Cornelia De Lange syndrome type 1 · NIPBL Cornelia de Lange syndrome

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