Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 2
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.
Ontology: Human Disease [DOID:0090009]   ( DOID:0090009 )

Relationships
is a type of: immunodeficiency-centromeric instability-facial anomalies syndrome