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Metadata
ID	DOID:0090011
Name	immunodeficiency-centromeric instability-facial anomalies syndrome 4
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 or compound heterozygous mutation in the HELLS gene on chromosome 10q23. https://www.ncbi.nlm.nih.gov/pubmed/26216346
Xrefs	ICD10CM:D84.8 OMIM:616911
Synonyms	ICF syndrome 4 [EXACT]
Parent Relationships	is_a immunodeficiency-centromeric instability-facial anomalies syndrome