Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Definition
Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
Also known as HELLS immunodeficiency-centromeric instability-facial anomalies syndrome, immunodeficiency-centromeric instability-Facial anomalies syndrome 4, immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS, immunodeficiency-centromeric instability-Facial anomalies syndrome type 4 — per MONDO