At this moment, no curative treatment is available.
Recommended evaluations following the initial diagnosis in individuals with KAT6B disorders include: EEG if clinical suspicion of seizures, brain MRI, evaluation of aspiration risk and nutritional status, echocardiogram, renal ultrasound, hearing test, ophthalmological evaluation, and evaluation of anal, genital and skeletal anomalies on physical examination.
Recommended periodic surveillance for individuals with KAT6B disorders include: EEG if clinical suspicion of seizures, evaluation of feeding and symptoms suggestive of small bowel malrotation, monitor for hearing loss, and follow up of thyroid function.
KAT6B