non-syndromic X-linked intellectual disability 2

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square fa

A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3.

Signs and symptoms

• Square face
• Short stature
• Poor fine motor coordination
• Macroorchidism
• Relative macrocephaly
• High palate
• Intellectual disability

Also known as: MRX2; X-linked mental retardation 2