X-linked intellectual developmental disorder 108

A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3.

Signs and symptoms

• Moderate intellectual disability
• Global developmental delay
• High anterior hairline
• Hypotonia
• Proximal muscle weakness
• Brisk reflexes
• Long face
• Delayed ability to walk
• Overweight
• Clinodactyly of the 5th finger

Also known as: MRX108