Kleefstra syndrome type 1 (KLEFS1) is a rare neurodevelopmental disorder caused by pathogenic variants in EHMT1, which play a key role in epigenetic regulation. Core features include global developmental delay (GDD), intellectual disability (ID), facial dysmorphism, congenital heart defects (CHDs), and neuropsychiatric manifestations.
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Kim et al. (2026) studied this question.
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