syndromic X-linked intellectual disability Pilorge type

A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or h

A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.

Signs and symptoms

• Delayed speech and language development
• Autism
• Bilateral tonic-clonic seizure
• Mild intellectual disability
• Poor suck
• Recurrent otitis media
• High myopia
• Hyperactivity
• Inflexible adherence to routines

Also known as: MRXSP