Metaphyseal dysplasia, anetoderma and optic atrophy: an autosomal recessive syndrome.
D000015:Abnormalities, Multiple; D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007717:Knee / Q000002:abnormalities; D009896:Optic Atrophy / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome