immunodeficiency-centromeric instability-facial anomalies syndrome 4

Term ID

DOID:0090011

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

References

• ICD10CM:D84.8
• OMIM:616911

Ontology

Human Disease   ( DOID:0090011 )