Multiple cutaneous, osseuous, ocular and neuromuscular defects.
D000328:Adult; D001847:Bone Diseases / Q000209:etiology; D003876:Dermatitis, Atopic / Q000150:complications*; D005128:Eye Diseases / Q000209:etiology; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000209:etiology