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. Author manuscript; available in PMC: 2017 Feb 1.
Published in final edited form as: Am J Med Genet A. 2015 Nov 21;170A(2):344–354. doi: 10.1002/ajmg.a.37435

Figure 2.

Figure 2

Flowchart describing the literature review process. A PubMed search was conducted using various search terms related to CHARGE syndrome, CHD7, and atypical phenotypes. Each publication identified in the search was reviewed to identify patients reported to have atypical or partial CHARGE, or to not meet diagnostic criteria. Clinical features were noted for each patient. We then assessed whether each patient would meet current diagnostic criteria as well as our proposed diagnostic criteria.