Summary Literature (0)

DOID:0090009 - immunodeficiency-centromeric instability-facial anomalies syndrome 2

Disease Ontology 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.

Synonyms: ICF syndrome 2

Xenbase Genes : zbtb24

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013553 - immunodeficiency-centromeric instability-facial anomalies syndrome 2

MIM:

MIM:614069 - IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

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

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