Term Name: immunodeficiency-centromeric instability-facial anomalies syndrome 3
Synonyms: ICF syndrome 3
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 mutation in the CDCA7 gene on chromosome 2q31.
Ontology: Human Disease [DOID:0090010]   ( DOID:0090010 )

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