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Results 31 - 40 of 135 for Intellectual "disability," autosomal dominant 10
  1. 17q12 duplication 
    ... in more than one copy, contribute to intellectual disability, delayed development, and the other signs ... 17q12 duplications have an autosomal dominant pattern of inheritance, which means one copy of ...
    https://medlineplus.gov/genetics/condition/17q12-duplication - Genetics
  2. Gillespie syndrome 
    ... no history of the disorder in their family. Autosomal dominant cases of Gillespie ... disability Aniridia-cerebellar ataxia-mental deficiency Partial aniridia-cerebellar ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  3. Autosomal dominant nocturnal frontal lobe epilepsy 
    ... 1995 Feb;118 ( Pt 1):61-73. doi: 10.1093/brain/118.1.61. Citation on PubMed
    https://medlineplus.gov/...-dominant-nocturnal-frontal-lobe-epilepsy - Genetics
  4. MED13L syndrome 
    ... delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. ... A. 2017 May;173(5):1264-1269. doi: 10.1002/ajmg.a.38168. Epub 2017 Mar 29. Citation on PubMed
    https://medlineplus.gov/genetics/condition/med13l-syndrome - Genetics
  5. Jansen-de Vries syndrome 
    ... Novel truncating PPM1D mutation in a patient with intellectual disability. Eur J Med Genet. 2019 Jan;62(1):70-72. doi: 10.1016/j.ejmg.2018.05.006. Epub 2018 ...
    https://medlineplus.gov/genetics/condition/jansen-de-vries-syndrome - Genetics
  6. Floating-Harbor syndrome 
    ... in a mother and daughter, further evidence of autosomal dominant inheritance. Clin Dysmorphol. 2012 Jan;21(1):11-14. doi: 10.1097/MCD.0b013e32834af5a7. Citation on PubMed Asseidat I, ...
    https://medlineplus.gov/genetics/condition/floating-harbor-syndrome - Genetics
  7. Familial focal epilepsy with variable foci 
    ... Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31. Citation ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  8. DNMT3A overgrowth syndrome 
    ... methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Erratum ...
    https://medlineplus.gov/.../condition/dnmt3a-overgrowth-syndrome - Genetics
  9. Pitt-Hopkins syndrome 
    ... Genet. 2008 Nov;45(11):738-44. doi: 10.1136/jmg.2008.060129. Epub 2008 Aug 26. Citation on PubMed
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
  10. 10q26 deletion syndrome 
    ... to the specific features of the disorder. chromosome 10 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/10q26-deletion-syndrome - Genetics
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