immunodeficiency-centromeric instability-facial anomalies syndrome 4

Summary

DOID:0090011 - immunodeficiency-centromeric instability-facial anomalies syndrome 4

Disease Ontology 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.

Synonyms: ICF syndrome 4,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): immunodeficiency-centromeric instability-facial anomalies syndrome (is_a)