Two further cases of spondyloenchondrodysplasia (SPENCD) with immune dysregulation.
D000328:Adult; D001327:Autoimmune Diseases / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D009220:Myositis / Q000473:pathology; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*