X-linked intellectual developmental disorder 109

A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_b

A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion.

Signs and symptoms

• Delayed speech and language development
• Intellectual disability
• Epicanthus
• Impulsivity
• Prominent nasal bridge
• Compulsive behaviors
• Agitation
• Hyperactivity
• Intrauterine growth retardation
• Incoordination

Also known as: Fragile XE syndrome; fragile site on chromosome Xq28