Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
immunodeficiency-centromeric instability-facial anomalies syndrome 1
MONDO:0009454
immunodeficiency-centromeric instability-facial anomalies syndrome 2
MONDO:0013553
immunodeficiency-centromeric instability-facial anomalies syndrome 3
MONDO:0014828