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Article

Clinical Characteristics of Patients With Kabuki Syndrome at a Single Tertiary Children's Hospital.

American journal of medical genetics. Part A - 1 Jun 2025

Dortenzio Victoria, Barbaric Lidija, Rosenfeld Elizabeth, Dechene Elizabeth T, Gilbert Melissa A, Dulik Matthew C, Rippert Alyssa L, Izumi Kosuke

Abstract excerpt

Kabuki syndrome (KS) is a multisystem disorder characterized by facial dysmorphic features, growth delays, skeletal anomalies, and variable intellectual disability (ID) due to pathogenic variants in KMT2D and KDM6A. Significant phenotypic variability has been reported in patients with KS. To further characterize the variability observed in the genomic sequencing era, comprehensive genotypic and phenotypic...

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Source

Identifiers

PMID: 39936499
DOI: 10.1002/ajmg.a.64003

Genes

KDM6A
KMT2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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