Human genes for immunodeficiency-centromeric instability-facial anomalies syndrome 1
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [DOID:0090008]
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2.
Synonyms: immunodeficiency-centromeric instability-facial anomalies syndrome 1, DOID:0090008, immunodeficiencycentromeric instabilityfacial anomalies syndrome 1, ICF syndrome 1