FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term immunodeficiency-centromeric instability-facial anomalies syndrome 2 ID (Ontology) DOID:0090009 (Human Disease)
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.
Also Known As "ICF syndrome 2"
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 Genes
 immunodeficiency-centromeric instability-facial anomalies syndrome 2       1
 for disease ribbon | immunodeficiency-centromeric instability-facial anomalies syndrome 2       1
 model of | immunodeficiency-centromeric instability-facial anomalies syndrome 2       1
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autosomal recessive disease__
syndrome_____________________|
                             immunodeficiency-centromeric instability-facial anomalies syndrome
                              |__immunodeficiency-centromeric instability-facial anomalies syndrome 2  1 rec.
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Is a immunodeficiency-centromeric instability-facial anomalies syndrome
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Synonyms
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ICD10CM:D84.8
MIM:614069