Metaphyseal chondrodysplasia, McKusick type (cartilage hair hypoplasia).
D000293:Adolescent; D001706:Biopsy; D002648:Child; D003241:Consanguinity; D003937:Diagnosis, Differential; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008231:Lymphopenia; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D012272:Ribs / Q000473:pathology