non-syndromic X-linked intellectual disability 1

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on

A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Delayed speech and language development
• Developmental regression
• Atonic seizure
• No social interaction
• Intellectual disability
• Poor speech
• Strabismus
• Hypermetropia
• Generalized hypotonia

Also known as: MRX1; MRX18; MRX78; X-linked mental retardation 1; X-linked mental retardation 1/78