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GENATLAS PHENOTYPE
last update : 25/08/2006
Symbol NYS4
Location 13q31-q33
HGNC id 19188
Name nystagmus 4, congenital
Other name(s) vestibulocerebellar disorder with predominant ocular signs
Main clinical features
  • eye movement disorder within the first 2 years of life . characterized by poor or absent smooth pursuit, gaze-evoked nystagmus, upbeat nystagmus, and poor vestibuloocular reflex
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease