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immunodeficiency-centromeric instability-facial anomalies syndrome 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene.
Uniprot Description A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009454:  immunodeficiency-centromeric instability-facial anomalies syndrome 1
NCIT:C156430: