Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 4 of 4 for Kabuki syndrome 2
  1. Kabuki syndrome 
    ... Testing Registry: Kabuki syndrome 1 Genetic Testing Registry: Kabuki syndrome 2 Kabuki syndrome National Organization for Rare Disorders (NORD) ClinicalTrials.gov KABUKI SYNDROME 1; KABUK1 KABUKI SYNDROME 2; KABUK2 PubMed Adam MP, Hudgins L, Hannibal M. ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  2. KMT2D gene 
    ... CT. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat. 2011 Feb;32(2):E2018-25. doi: 10.1002/humu.21416. Epub ...
    https://medlineplus.gov/genetics/gene/kmt2d - Genetics
  3. KDM6A gene 
    ... N. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A. 2013 Sep;161A(9):2234-43. doi: 10.1002/ajmg.a.36072. Epub 2013 Aug 2. Citation on PubMed Miyake N, Mizuno S, Okamoto ...
    https://medlineplus.gov/genetics/gene/kdm6a - Genetics
  4. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
    https://medlineplus.gov/developmentaldisabilities.html - Health Topics