Mondo Description Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene.
Uniprot Description A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.
Mondo Term and Equivalent IDs
MONDO:0011181: fibrosis of extraocular muscles, congenital, 2