|OBO ID: DOID:0090009|
|Term Name:||immunodeficiency-centromeric instability-facial anomalies syndrome 2||Search Ontology:|
|Definition:||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. https://www.ncbi.nlm.nih.gov/pubmed/21596365|
|Ontology:||Human Disease (DOID:0090009)|
|is a type of:||
OTHER immunodeficiency-centromeric instability-facial anomalies syndrome 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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