Congenital blepharophimosis, joint contractures, and muscular hypotonia.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000473:pathology; D001176:Arthrogryposis / Q000175:diagnosis; D003286:Contracture / Q000151:congenital*; D003937:Diagnosis, Differential; D005143:Eyelids / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities*; D008297:Male; D009129:Muscle Tonus; D009132:Muscles / Q000002:abnormalities / Q000473:pathology; D009135:Muscular Diseases / Q000151:congenital*