immunodeficiency-centromeric instability-facial anomalies syndrome 3

Term ID

DOID:0090010

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. https://www.ncbi.nlm.nih.gov/pubmed/26216346

References

• ICD10CM:D84.8
• OMIM:616910

Ontology

Human Disease   ( DOID:0090010 )