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GENATLAS PHENOTYPE
last update : 01-07-2016
Symbol DURS4
Location 20q12
Name Duane retraction syndrome 4
Corresponding gene MAFB
Main clinical features
  • congenital eye-movement disorder defined by limited outward gaze and retraction of the eye on attempted inward gaze
  • primary cause of DRS is failure of the abducens nerve to fully innervate the lateral rectus muscle in early development (PMID: 27181683))
  • Genetic determination autosomal dominant
    Prevalence 1p100 of DRS
    Function/system disorder eye
    Type disease
    Remark(s)