Congenital fibrosis of extraocular muscles type 1

Definition

Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene.

Also known as CFEOM1, congenital fibrosis of extraocular muscles caused by mutation in KIF21A, fibrosis of extraocular muscles, congenital, 1, KIF21A congenital fibrosis of extraocular muscles — per MONDO

Also identified as

• DOID 0081015 per MONDO
• OMIM 135700 per MONDO
• UMLS C1851102 per MONDO