Myotonia, dwarfism, diffuse bone disease and unusual ocular and facial abnormalities (a new syndrome).
D001847:Bone Diseases / Q000150:complications*; D002648:Child; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000235:genetics*; D005124:Eye Abnormalities; D005149:Facial Expression; D005260:Female; D006801:Humans; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000175:diagnosis; D009222:Myotonia / Q000150:complications*