Schwartz syndrome: myotonia with blepharophimosis and limitation of joints.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000235:genetics; D009136:Muscular Dystrophies / Q000235:genetics*; D013577:Syndrome