So far, only a few children with changes in the EHMT2 gene have been identified. Even though the number of cases is small, some shared features have been observed:
● Developmental delays, such as later-than-expected milestones in sitting, walking, or speaking;
● Learning and communication difficulties, affecting cognitive and social interactions;
● Low muscle tone, which may result in reduced muscle strength or a "floppy" appearance
● Subtle differences in facial appearance, which may vary among affected individuals;
It’s important to know that not every child with an EHMT2alteration will exhibit all these features, and the severity and spectrum of clinical manifestations can differ significantly.
EHMT2