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Results 1 - 5 of 5 for Intellectual "disability," autosomal dominant 15
  1. WASHC5 gene 
    ... Bueno MR, Zatz M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. doi: 10.1002/(sici) ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  2. CACNA1A gene 
    ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997 Jan;15(1):62-9. doi: 10.1038/ng0197-62. ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. DYRK1A gene 
    ... have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head ( ... signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.DYRK1A gene mutations result in loss of ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  4. ELN gene 
    ... disorder that is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  5. RELN gene 
    ... structures do not develop properly. This leads to intellectual disabilities, delays in overall development, movement problems, and other ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/reln - Genetics