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Metadata
ID	DOID:0090010
Name	immunodeficiency-centromeric instability-facial anomalies 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. https://www.ncbi.nlm.nih.gov/pubmed/26216346
Xrefs	ICD10CM:D84.8 OMIM:616910
Synonyms	ICF syndrome 3 [EXACT]
Parent Relationships	is_a immunodeficiency-centromeric instability-facial anomalies syndrome