immunodeficiency-centromeric instability-facial anomalies syndrome 2

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 homozygou

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.

Signs and symptoms

• Intellectual disability
• Decreased circulating IgG concentration
• Recurrent upper respiratory tract infections
• Decreased circulating IgM concentration
• Motor delay
• Decreased circulating IgA concentration
• Epicanthus
• Anteverted nares
• Short nose
• Recurrent infections

Also known as: ICF syndrome 2