Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.
Taylor MJ, Josifek K.
Am J Med Genet. 1981;9(1):5-11. doi: 10.1002/ajmg.1320090103.
PMID:6264787
Congenital alymphoplasmacytic agammaglobulinemia with thymic dysplasia.
Delta BG, Rothenberg AM, Ainsworth HD, Innella F.
JAMA. 1965 Nov 1;194(5):507-11.
PMID:5319606
Inborn errors of immunity associated with characteristic phenotypes.