/congenital fibrosis of extraocular muscles type 1
congenital fibrosis of extraocular muscles type 1
Rare Disease
MONDO:0021083
Also Known As
CFEOM1KIF21A congenital fibrosis of extraocular musclescongenital fibrosis of extraocular muscles caused by mutation in KIF21Afibrosis of extraocular muscles, congenital, 1Feom1 locusblepharoptosis with absent eye movementsfibrosis of extraocular muscles, congenital, 3Bophthalmoplegia, congenital
Definition
Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
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