Kabuki syndrome

Summary
Synonym
  • KMS
  • Kabuki make up syndrome
  • Niikawa-Kuroki syndrome
Definition
A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects.
Super Class
syndrome
Disease Ontology
DOID:0060473
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
7403 KDM6A lysine demethylase 6A
8085 KMT2D lysine methyltransferase 2D
Related Glycoprotein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025