Panel | Mode of inheritance | Details |
---|---|---|
1 panel | ||
R-numbers: R15 Signed-off version 5.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome, ICF, Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911, ICF4, Facial dysmorphic features, macroglossia, bacterial/opportunistic infections, malabsorption, cytopenias, malignancies, multiradial configurations of chromosomes 1, 9, 16, Combined immunodeficiencies with associated or syndromic features |