Metaphyseal chondrodysplasia with dwarfism, pancreatic insufficiency and neutropenia.
D000293:Adolescent; D000328:Adult; D000380:Agranulocytosis / Q000000981:diagnostic imaging / Q000235:genetics; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics; D005096:Exostoses / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010182:Pancreatic Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D013577:Syndrome