oculopharyngeal syndrome

oc·u·lo·pha·ryn·ge·al syn·drome

[MIM*164300] a myopathic disorder with a slowly progressive blepharoptosis and dysphagia, beginning late in life; autosomal dominant inheritance, caused by mutation in the gene encoding poly(A)-binding protein-2 (PABP2) on chromosome 14q.

oc·u·lo·pha·ryn·ge·al syn·drome

(okyū-lō-fă-rinjē-ăl sindrōm) [MIM*164300] Myopathic disorder with a slowly progressive blepharoptosis and dysphagia, beginning late in life.