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Article

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

Molecular genetics & genomic medicine - 1 Apr 2026

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

Abstract excerpt

BACKGROUND: Heterozygous loss-of-function variants in the KMT2C gene were only recently recognized as a cause of neurodevelopmental disorder distinct from Kleefstra and Kabuki 1 syndromes. KMT2C-related neurodevelopmental disorder is characterized by developmental delay, intellectual disability, behavioral and psychiatric problems, seizures, craniofacial dysmorphism, and other comorbidities. Here we describe...

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Source

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Identifiers

PMID: 41914216
DOI: 10.1002/mgg3.70209
PMCID: PMC13140550

Genes

KMT2C

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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