Term Name: | immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
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Synonyms: | ICF syndrome 3 |
Definition: | An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. |
Ontology: | Human Disease [DOID:0090010] ( DOID:0090010 ) |