Congenital blepharophimosis associated with a unique generalized myopathy.
SCHWARTZ
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JAMPEL
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D016569:Blepharophimosis; D004194:Disease; D005141:Eyelid Diseases; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D009132:Muscles; D009135:Muscular Diseases
EYELIDS/abnormalities; MUSCLES/diseases