Gene: [12^/FEOM1] fibrosis of the extraocular muscles, congenital; [FEOM ]

PAT

Affected individuals are born with a nonprogressive eye movement disorder characterized by bilateral ptosis and restrictive ophthalmoplegia with globes 'frozen' in extreme infraduction. Ability to adduct, elevate, or depress the globes is absent."

REL

GEM:11q131/FEOM2.

REF

LIN,LOC "Engle EC &: AJHG, 57, 1086-1094, 1995
LIN,LOC "Engle EC &: Nature Genet, 7, 69-73, 1994

KEY

myo, eye

CLA

unknown, basic

LOC

12 p11.2-q12

MIM

MIM: 135700

SYN

FEOM