immunodeficiency-centromeric instability-facial anomalies syndrome 4 (DOID:0090011)
Alliance: disease page
Synonyms: ICF syndrome 4
Alt IDs: OMIM:616911, ICD10CM:D84.8
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.