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 - 10 of 38 for Kleefstra syndrome
  1. Kleefstra syndrome 
    Kleefstra syndrome is a disorder that involves many parts of the body. Characteristic features of Kleefstra syndrome include developmental delay and intellectual ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  2. EHMT1 gene 
    ... which is essential for normal development and function. Kleefstra syndrome, a disorder affecting many parts of the body, ... mutations that disable its function.Most people with Kleefstra syndrome are missing a sequence of about 1 million ...
    https://medlineplus.gov/genetics/gene/ehmt1 - Genetics
  3. Chromosome 9 
    ... More About This Health Condition Most people with Kleefstra syndrome, a disorder with signs and symptoms involving many ... to be responsible for the characteristic features of Kleefstra syndrome in people with the 9q34.3 deletion. However, ...
    https://medlineplus.gov/genetics/chromosome/9 - 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
  5. Patient support and advocacy groups 
    ... with Heart National Association for Children's Heart Disorders Kleefstra Syndrome Community Klippel-Feil Syndrome Alliance Klippel-Feil Syndrome ...
    https://medlineplus.gov/about/general/genetics/supportadvocacygroups -
  6. KBG syndrome 
    ... TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. Eur J Hum ...
    https://medlineplus.gov/genetics/condition/kbg-syndrome - Genetics
  7. Renpenning syndrome 
    ... on PubMed Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  8. PQBP1 gene 
    ... on PubMed Stevenson RE, Bennett CW, Abidi F, Kleefstra T, Porteous M, Simensen RJ, Lubs HA, Hamel BC, Schwartz CE. Renpenning syndrome comes into focus. Am J Med Genet A. ...
    https://medlineplus.gov/genetics/gene/pqbp1 - Genetics
  9. ADNP syndrome 
    ... M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  10. 15q13.3 microdeletion 
    ... Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to ...
    https://medlineplus.gov/genetics/condition/15q133-microdeletion - Genetics
previous · 1 · 2 · 3 · 4 · next