- Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities. Gustavsson, P., Schoumans, J., Staaf, J., Jönsson, G., Carlsson, F., Kristoffersson, U., Borg, A., Nordenskjöld, M., Dahl, N. Clin. Genet. (2006)