syndromic X-linked intellectual disorder Lujan-Fryns-type

A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrom

A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype.

Signs and symptoms

• High palate
• Narrow face
• Long face
• Short philtrum
• Dental crowding
• Intellectual disability
• Tall stature
• Micrognathia
• Agenesis of corpus callosum
• Narrow nose