non-syndromic X-linked intellectual disability 104

A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation

A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.

Signs and symptoms

• Intellectual disability
• Delayed speech and language development
• Global developmental delay
• Delayed gross motor development
• Hyperreflexia
• Autistic behavior
• Ataxia
• Spasticity
• Tremor
• Strabismus

Also known as: MRX104; X-linked mental retardation 104