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GENATLAS PHENOTYPE
last update : 10-10-2017
Symbol MRXSA
Location Xq26.3
Name mental retardation X-linked , South African type
Other name(s) Christianson syndrome
Corresponding gene SLC9A6
Other symbol(s) MRSA
Main clinical features
  • profound mental retardation, mutism despite apparently normal hearing, grand mal epilepsy, microcephaly, and limited life expectancy
  • mild craniofacial dysmorphism, bilateral ophthalmoplegia and truncal ataxia, and at cranial imaging, cerebellar and brainstem atrophy
  • mimicking Angelman syndrome
  • Genetic determination sex linked
    Function/system disorder
    Type disease
    Remark(s)