congenital fibrosis of the extraocular muscles

con·gen·i·tal fi·bro·sis of the ex·tra·oc·u·lar mus·cles

[MIM*135700]
an autosomal dominant disorder associated with blepharoptosis and absence of eye movements.
References in periodicals archive ?
Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.
Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles.
A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.
Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia.
The optic nerve head in congenital fibrosis of the extraocular muscles.
Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.
Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).
Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.
Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A.
Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13.
Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).
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