immune dysregulation, neurodevelopmental defects, and colitis

A physical disorder characterized by eye and brain abnormalities, inflammatory bowel disease, immune dysregulation, and other developmental issues that has_material_basis_in homozygous or compound heterozygous mutation in the ITGAV gene on chromosome 2q32.

Signs and symptoms

• Colitis
• Monoclonal elevated circulating IgE concentration
• Microcephaly
• Colonic eosinophilia
• Increased total eosinophil count
• Atopic dermatitis
• Global developmental delay
• Recurrent fungal infections
• Reduced bone mineral density
• Dysplastic corpus callosum

Also known as: IDNDC