OBO ID: DOID:0090008 |
Term Name: | immunodeficiency-centromeric instability-facial anomalies syndrome 1 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0090008 ) |
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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