Term Name:	immunodeficiency-centromeric instability-facial anomalies syndrome 4
Synonyms:	ICF 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.
Ontology:	Human Disease [DOID:0090011]   ( DOID:0090011 )