Cornelia de Lange syndrome 1

Definition

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

Also known as Cornelia de Lange syndrome 1, Cornelia de Lange syndrome caused by mutation in NIPBL, Cornelia De Lange syndrome type 1, NIPBL Cornelia de Lange syndrome — per MONDO

Also identified as

• DOID 0080505 per MONDO
• ICD9 759.89 per MONDO
• OMIM 122470 per MONDO
• SCTID 40354009 per MONDO
• UMLS C4551851 per MONDO