Blepharophimosis and acquired somato-facial dysmorphism. Associated with congenital cataracts.
D001847:Bone Diseases / Q000175:diagnosis; D001842:Bone and Bones / Q000002:abnormalities*; D002386:Cataract / Q000150:complications / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics; D005128:Eye Diseases / Q000150:complications* / Q000235:genetics; D005143:Eyelids; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics