Immunodeficiency-centromeric instability-facial anomalies syndrome 1

Definition

Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.

Also known as DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-facial anomalies syndrome 1, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B, immunodeficiency-centromeric instability-Facial anomalies syndrome type 1 — per MONDO

Also identified as

• DOID 0090008 per MONDO
• NCIT C156430 per MONDO
• OMIM 242860 per MONDO
• UMLS C4551557 per MONDO