syndromic X-linked intellectual disability 12

A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11.

Signs and symptoms

• Wide mouth
• Square face
• Delayed speech and language development
• Seizure
• Aphasia
• Recurrent infections
• Postnatal growth retardation
• Thick lower lip vermilion
• Brachycephaly
• Mandibular prognathia

Also known as: X-linked intellectual disability, Wilson type; mental retardation, X-linked, syndromic 12