immunodeficiency, developmental delay, and hypohomocysteinemia

An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene o

An autosomal dominant intellectual developmental disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia that has_material_basis_in heterozygous mutation in the NFE2L2 gene on chromosome 2q31.

Signs and symptoms

• Recurrent lower respiratory tract infections
• Mild global developmental delay
• Decreased serum creatinine
• Failure to thrive
• Hypohomocysteinemia
• Recurrent skin infections
• Short stature
• Headache
• Delayed skeletal maturation
• Mild intellectual disability

Also known as: IMDDHH