Novel Variants in KMT2C Further Support a Neurodevelopmental Disorder Distinct From Kleefstra and Kabuki Syndromes

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This paper reports three new patients with KMT2C-related neurodevelopmental disorder, also called Kleefstra syndrome 2. Exome sequencing found novel KMT2C variants in patients with developmental and speech delay, autism, cognitive impairment, seizures, and facial differences, further expanding the known genetic and clinical spectrum.

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