Term Name:	immunodeficiency-centromeric instability-facial anomalies syndrome 1
Synonyms:	ICF syndrome 1
Definition:	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.
Ontology:	Human Disease [DOID:0090008]   ( DOID:0090008 )