NM_018489.3:c.340A>G

A boy in the 11–15 age group whose family has built a broad communication and participation program around school, AAC, frequent speech-language therapy, occupational therapy, ABA, physical activity, and motor-speech support. His history also includes a family-reported absence event, a family-reported prior left-temporal EEG finding, and a later 12-hour EEG. His 2022 exome identified two separate variants of uncertain significance—one in ASH1L and one in KDM1A—and neither currently establishes a molecular diagnosis.