fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene.
MONDO:0007614
congenital fibrosis of extraocular muscles
is_a
MONDO:0100154
TUBB3-related tubulinopathy
is_a
CFEOM3A
related
TUBB3 congenital fibrosis of extraocular muscles
exact
congenital fibrosis of extraocular muscles caused by mutation in TUBB3
exact
fibrosis of extraocular muscles, congenital, 3A
exact
fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
exact
SPBC26H8.07c