Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 26-01-2015
Symbol DURS3
Location 4q25
Name Duane retraction syndrome-3
Other name(s) congenital cranial dysinnervation disorder
Corresponding gene COL25A1
Other symbol(s) CCDD
Main clinical features
  • restricted horizontal eye movement with globe retraction and palpebral fissure narrowing on attempted adduction
  • congenital ptosis covering the upper half of the pupil
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease