immunodeficiency-centromeric instability-facial anomalies syndrome 2

Term ID

DOID:0090009

Synonyms

• ICF syndrome 2

Definition

An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/21596365

References

• ICD10CM:D84.8
• MIM:614069

Ontology

Human Disease   ( DOID:0090009 )