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Kabuki syndrome MeSH Supplementary Concept Data 2023


MeSH Supplementary
Kabuki syndrome
Unique ID
C537705
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537705
Entry Term(s)
Kabuki Make-Up Syndrome
Kabuki Makeup Syndrome
Kabuki make up syndrome
Niikawa-Kuroki syndrome
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
Face / *abnormalities
*Hematologic Diseases
*Vestibular Diseases
Frequency
250
Note
A congenital syndrome characterized by neurodevelopmental dysfunction, DWARFISM, a FACIES with long palpebral fissures and eversion of the lateral third of the lower eyelids, and other anatomical abnormalities. A heterozygous mutation in the KMT2D gene is associated with Kabuki Syndrome-1 (OMIM: 147920). Mutations in the KDM6A gene have been associated with Kabuki Syndrome-2 (OMIM: 300867).
Date of Entry
2010/08/25
Revision Date
2015/08/18
Kabuki syndrome Preferred
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