Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Definition
Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the ZBTB24 gene.
Also known as immunodeficiency-centromeric instability-facial anomalies syndrome 2, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24, immunodeficiency-centromeric instability-Facial anomalies syndrome type 2, ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome — per MONDO