Human genes for immunodeficiency-centromeric instability-facial anomalies syndrome 2
Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [DOID:0090009]
An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21.
Synonyms: immunodeficiency-centromeric instability-facial anomalies syndrome 2, DOID:0090009, immunodeficiencycentromeric instabilityfacial anomalies syndrome 2, ICF syndrome 2