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GENATLAS PHENOTYPE

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

Remark(s)