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Results 1 - 10 of 15 for Kleefstra syndrome 1
  1. Kleefstra syndrome 
    ... syndrome Chromosome 9q deletion syndrome Genetic Testing Registry: Kleefstra syndrome 1 Kleefstra syndrome National Organization for Rare Disorders (NORD) ...
    https://medlineplus.gov/genetics/condition/kleefstra-syndrome - Genetics
  2. 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. 2005 May 1;134(4):415-21. doi: 10.1002/ajmg. ...
    https://medlineplus.gov/genetics/condition/renpenning-syndrome - Genetics
  3. 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 Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  4. PPP2R5D-related intellectual disability 
    ... for Rare Disorders (NORD) ClinicalTrials.gov HOUGE-JANSSENS SYNDROME 1; HJS1 PubMed Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman ...
    https://medlineplus.gov/.../ppp2r5d-related-intellectual-disability - Genetics
  5. Potocki-Shaffer syndrome 
    ... Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs ... Am J Hum Genet. 2012 Jul 13;91(1):56-72. doi: 10.1016/j.ajhg.2012. ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  6. Baraitser-Winter syndrome 
    ... and mental retardation Genetic Testing Registry: Baraitser-Winter syndrome 1 Genetic Testing Registry: Baraitser-Winter Syndrome 2 Baraitser- ... National Organization for Rare Disorders (NORD) BARAITSER-WINTER SYNDROME 1; BRWS1 BARAITSER-WINTER SYNDROME 2; BRWS2 PubMed Baraitser ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  7. X-linked creatine deficiency 
    ... Rare Disorders (NORD) ClinicalTrials.gov CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 PubMed Beard E, Braissant O. Synthesis and ... C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. ... syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar; ...
    https://medlineplus.gov/.../condition/x-linked-creatine-deficiency - Genetics
  8. 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
  9. FOXG1 syndrome 
    ... Recommended in Male and Female Patients with Rett Syndrome. Mol Syndromol. 2011 Sep;1(6):290-293. doi: 10.1159/000330755. Epub 2011 Aug 9. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/foxg1-syndrome - Genetics
  10. White-Sutton syndrome 
    ... changes in the gene associated with White-Sutton syndrome may account for up to 1 in 700 cases of intellectual disability, autism spectrum ... Spring Harb Mol Case Stud. 2015 Oct;1(1):a000455. doi: 10.1101/mcs.a000455. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/white-sutton-syndrome - Genetics
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