Links
[1] http://omim.org/entry/609937
[2] http://omim.org/entry/242860
[3] https://disorders.eyes.arizona.edu/references/mutations-cdca7-and-hells-cause-immunodeficiency-centromeric-instability-facial-anomalies
[4] https://disorders.eyes.arizona.edu/references/unknown-syndrome-ischiadic-hypoplasia-renal-dysfunction-immunodeficiency-and-pattern