The Mendelian disorders of the epigenetic machinery

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Figure 2.
Figure 2.

The Mendelian disorders of the epigenetic machinery exhibit phenotypic breadth. (A) When all phenotypic features are tallied in available OMIM clinical synopsis, the Mendelian disorders of the epigenetic machinery have a shift in the distribution toward higher bins, indicating phenotypic breadth compared with all other diseases with available clinical synopsis. (B) Similarly, there is shift in distribution toward higher number of organ systems affected in the Mendelian disorders of the epigenetic machinery compared with other diseases.

This Article

  1. Genome Res. 25: 1473-1481

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