Immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO:0009454Any 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 type 1, 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, ICF1, centromeric instability, immunodeficiency syndrome, immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16
3 clinical trials for this condition and its sub-types.
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