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| Term | immunodeficiency-centromeric instability-facial anomalies syndrome 3 | ID (Ontology) | DOID:0090010 (Human Disease) |
| 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. | ||
| Also Known As | "ICF syndrome 3" | ||
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autosomal recessive disease__ syndrome_____________________| immunodeficiency-centromeric instability-facial anomalies syndrome |__immunodeficiency-centromeric instability-facial anomalies syndrome 3 |
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| Is a | immunodeficiency-centromeric instability-facial anomalies syndrome | ||
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ICD10CM:D84.8 MIM:616910 |
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