Scientific Article 🇬🇧 Directly KS related

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

person Lucie Sedláčková, Dana Šafka Brožková, Markéta Havlovicová, Petra Laššuthová

calendar_today Apr 1, 2026

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.