Term Name: | immunodeficiency-centromeric instability-facial anomalies syndrome 2 |
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Synonyms: | ICF syndrome 2 |
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. |
Ontology: | Human Disease [DOID:0090009] ( DOID:0090009 ) |