cell division cycle associated 7
OMIM: 609937
PanelMode of inheritanceDetails
1 panel
R-numbers: R15
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Immunodeficiency-centromeric instability-facial anomalies syndrome, ICF, Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910, ICF3, immunodeficiency, centromeric instability, facial anomalies syndrome type 3, recurrent respiratory infections, hypogammaglobulinaemia, enteropathy, Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16, Combined immunodeficiencies with associated or syndromic features