In some cases, a de novo missense mutation in EED was associated with decreased levels of H3K27me3 in comparison to wild type. This decrease was linked to loss of PRC2 activity.
Cohen-Gibson syndrome
Gleich's syndrome
Antley–Bixler syndrome
Leschke syndrome
Cohen syndrome
Keppen–Lubinsky syndrome
Zunich–Kaye syndrome
Barakat-Perenthaler syndrome