Christianson syndrome

A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_m

A syndromic X-linked intellectual disability characterized by microcephaly, impaired ocular movements, progressive severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types that has_material_basis_in mutation in hemizygous mutation in the SLC9A6 gene on chromosome Xq26.

Signs and symptoms

• Strabismus
• Seizure
• Ataxia
• Interictal epileptiform activity
• Absent speech
• Profound global developmental delay
• Microcephaly
• Open mouth
• Drooling
• Decreased body weight

Also known as: Christianson type of X-linked syndromic intellectual developmental disorder; MRXSCH; X-linked Angelman-like syndrome; X-linked intellectual disability, South African type; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome