Panel | Mode of inheritance | Details |
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1 panel | ||
R-numbers: R15 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes 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 |