|OBO ID: DOID:0090008|
|Term Name:||immunodeficiency-centromeric instability-facial anomalies syndrome 1||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0090008)|
|is a type of:||
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 1 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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