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Results 1 - 10 of 16 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. 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
  3. 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
  4. 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
  5. 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
  6. Snijders Blok-Campeau syndrome 
    ... Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  7. Ohdo syndrome, Maat-Kievit-Brunner type 
    ... M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92( ...
    https://medlineplus.gov/.../ohdo-syndrome-maat-kievit-brunner-type - Genetics
  8. FOXG1 syndrome 
    ... Organization for Rare Disorders (NORD) ClinicalTrials.gov RETT SYNDROME, CONGENITAL VARIANT PubMed De Filippis R, Pancrazi L, Bjorgo K, Rosseto A, Kleefstra T, Grillo E, Panighini A, Cardarelli F, Meloni ...
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
  9. Potocki-Shaffer syndrome 
    ... Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs ... region are associated with intellectual disability and craniofacial ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  10. Baraitser-Winter syndrome 
    ... Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, ... ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440- ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
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