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GENATLAS PHENOTYPE
last update : 03/10/11
Symbol NYS6
Location Xp22.2
Name nystagmus 6, congenital
Corresponding gene GPR143
Main clinical features
  • bilateral uncontrollable ocular oscillations, reduced vision, and onset typically at birth or within the first few months of life
  • oscillations can be horizontal, vertical, or torsional, or any combination of these, although horizontal are the most common
  • fundus hypopigmentation and foveal hypoplasia
    • Genetic determination sex linked
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    abnormal splicing     splicing mutation c.658+1 g>t in a five-generation Chinese family with XLOA (PMID:21423867)
    Remark(s)