immunodeficiency-centromeric instability-facial anomalies syndrome 3

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 o

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.

Signs and symptoms

• Recurrent infections
• Recurrent otitis media
• Epicanthus
• Decreased circulating immunoglobulin concentration
• Microcephaly
• Strabismus
• Agammaglobulinemia
• Global developmental delay
• Short nose
• Hypoplastic ischia

Also known as: ICF syndrome 3