syndromic X-linked intellectual disability 14

A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in

A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24.

Signs and symptoms

• Mild intellectual disability
• Intellectual disability
• Narrow face
• Slender build
• High palate
• Long face
• Prominent nasal bridge
• Autistic behavior
• Hypoplasia of the maxilla
• Mandibular prognathia

Also known as: mental retardation, X-linked, syndromic 14