immunodeficiency-centromeric instability-facial anomalies syndrome 4

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 or compound heterozygous mut

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 or compound heterozygous mutation in the HELLS gene on chromosome 10q23.

Signs and symptoms

• Recurrent infections
• Intellectual disability
• Motor delay
• Epicanthus
• Decreased circulating immunoglobulin concentration
• Agammaglobulinemia
• Hypertelorism
• Depressed nasal bridge
• Global developmental delay
• Abnormal B cell morphology

Also known as: ICF syndrome 4