Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma.
D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005882:Gingival Diseases / Q000235:genetics; D006099:Granuloma / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008047:Lip Diseases / Q000235:genetics; D008297:Male; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome