Short stature, absent thumbs, flat facies, anosmia and combined immune deficiency (CID).
D000328:Adult; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008297:Male; D000857:Olfaction Disorders / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*