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Results 51 - 60 of 135 for Intellectual "disability," autosomal dominant 10
  1. Recombinant 8 syndrome 
    ... Pathol. 1984 Nov;15(11):1080-4. doi: 10.1016/s0046-8177(84)80252-x. Citation on PubMed
    https://medlineplus.gov/genetics/condition/recombinant-8-syndrome - Genetics
  2. STXBP1 encephalopathy 
    ... Epilepsia. 2016 Apr;57(4):e81-6. doi: 10.1111/epi.13338. Epub 2016 Feb 25. Citation on PubMed
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  3. 3q29 microdeletion syndrome 
    ... A. A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. Am J Med Genet B Neuropsychiatr Genet. 2016 Mar;171B(2):290-9. doi: 10.1002/ajmg.b.32406. Epub 2015 Dec 1. ...
    https://medlineplus.gov/.../condition/3q29-microdeletion-syndrome - Genetics
  4. MN1 C-terminal truncation syndrome 
    ... 2020 Jan 2;106(1):13-25. doi: 10.1016/j.ajhg.2019.11.011. Epub 2019 Dec 12. Citation on PubMed
    https://medlineplus.gov/.../mn1-c-terminal-truncation-syndrome - Genetics
  5. Centronuclear myopathy 
    ... Mandel JL, Romero NB, Laporte J. Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations. Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25. Citation ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  6. Dentatorubral-pallidoluysian atrophy 
    ... death of these neurons lead to uncontrolled movements, intellectual decline, and the other characteristic features of DRPLA. ATN1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../dentatorubral-pallidoluysian-atrophy - Genetics
  7. Trichorhinophalangeal syndrome type II 
    ... 2008 Dec 15;146A(24):3211-6. doi: 10.1002/ajmg.a.32615. Citation on PubMed
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  8. Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 
    ... Dysmorphol. 2003 Apr;12(2):109-13. doi: 10.1097/00019605-200304000-00007. Citation on PubMed
    https://medlineplus.gov/...ay-barber-biesecker-young-simpson-variant - Genetics
  9. CHD2 myoclonic encephalopathy 
    ... Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7. Citation on PubMed
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  10. Genitopatellar syndrome 
    ... 2012 Feb 10;90(2):290-4. doi: 10.1016/j.ajhg.2011.11.024. Epub 2012 Jan 19. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/genitopatellar-syndrome - Genetics
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