congenital fibrosis of extraocular muscles type 1
Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0007614
congenital fibrosis of extraocular muscles
is_a
CFEOM1
exact
KIF21A congenital fibrosis of extraocular muscles
exact
congenital fibrosis of extraocular muscles caused by mutation in KIF21A
exact
fibrosis of extraocular muscles, congenital, 1
exact