GTR Home > Conditions/Phenotypes > Christianson syndrome

Summary

Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Carrier females may be mildly affected (summary by Schroer et al., 2010). [from OMIM]

Associated genes

  • Also known as: RP11-274K13.1, MRSA, NHE6, SLC9A6
    Summary: solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6

Clinical features

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  • Intellectual disability, severe
  • Strabismus
  • Adducted thumb
  • Long face
  • Truncal ataxia
  • Narrow face
  • Gait disturbance
  • Long nose
  • Arthrogryposis multiplex congenita
  • Microcephaly
  • Loss of ability to walk in first decade
  • Intellectual disability, progressive
  • Neuronal loss in central nervous system
  • Dysphagia
  • Cognitive impairment
  • Open mouth
  • Amyotrophy
  • Macrotia
  • Incoordination
  • Seizure
  • Nystagmus
  • Feeding difficulties in infancy
  • Urinary incontinence
  • Ophthalmoparesis
  • Mandibular prognathia
  • Deeply set eye
  • Thick eyebrow
  • Ophthalmoplegia
  • Autism
  • Pectus excavatum
  • Narrow chest
  • Slender finger
  • Global developmental delay
  • Cerebellar atrophy
  • Flexion contracture
  • Joint hypermobility
  • Abnormality of the foot
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Neurological speech impairment
  • Mutism
  • Drooling
  • Sleep disturbance
  • Hyperkinesis
  • Bowel incontinence
  • Decreased body weight
  • Photosensitive tonic-clonic seizures
  • Aplasia/Hypoplasia of the cerebellum
  • Aplasia/Hypoplasia of the corpus callosum
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