Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Immunodeficiency-centromeric instability-facial anomalies syndrome 3
Definition
Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene.
Also known as CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-Facial anomalies syndrome 3, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7, immunodeficiency-centromeric instability-Facial anomalies syndrome type 3 — per MONDO