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Article

Kabuki syndrome: international consensus diagnostic criteria.

Journal of medical genetics - 1 Feb 2019

Adam Margaret P, Banka Siddharth, Bjornsson Hans T, Bodamer Olaf, Chudley Albert E, Harris Jaqueline, Kawame Hiroshi, Lanpher Brendan C, Lindsley Andrew W, Merla Giuseppe, Miyake Noriko, Okamoto Nobuhiko, Stumpel Constanze T, Niikawa Norio

Abstract excerpt

BACKGROUND: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door to targeted therapies. The purpose of this report is to propose diagnostic criteria for KS, particularly when molecular genetic testing is equivocal. METHODS: An international group of experts created consensus...

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Source

Identifiers

PMID: 30514738
DOI: 10.1136/jmedgenet-2018-105625

Genes

KDM6A
KMT2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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