congenital fibrosis of the extraocular muscles 1

Term ID

DOID:0081015

Synonyms

Definition

A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. https://pubmed.ncbi.nlm.nih.gov/18214786/

References

• OMIM:135700

Ontology

Human Disease   ( DOID:0081015 )