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Results 1 - 10 of 11 for Intellectual "disability," autosomal dominant 10
  1. ALDH18A1 gene 
    ... of the eyes (cataracts) or other eye abnormalities; intellectual disability; and movement problems that can worsen over time. Autosomal recessive cutis laxa tends to be more severe than autosomal dominant.Most ALDH18A1 gene variants involved in cutis laxa ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  2. KCNT1 gene 
    ... gene have been found in several people with autosomal dominant nocturnal frontal lobe ... disability. The KCNT1 gene variants involved in this condition ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
  3. GCH1 gene 
    ... Neurol. 2006 Nov;63(11):1605-10. doi: 10.1001/archneur.63.11.1605. Citation on PubMed Segawa M. Autosomal dominant GTP cyclohydrolase I (AD GCH 1) deficiency (Segawa ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  4. ELN gene 
    ... A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004 Sep;140(9):1135-9. doi: 10.1001/archderm.140.9.1135. Citation on PubMed ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  5. MSX1 gene 
    ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J Dent Res. 2006 Mar;85(3):267-71. doi: 10.1177/154405910608500312. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/msx1 - Genetics
  6. WASHC5 gene 
    ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9. doi: 10.1086/302258. Citation on PubMed or Free article ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  7. TBC1D24 gene 
    ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35(7):819-23. doi: 10.1002/humu.22557. Epub 2014 May 6. Citation ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  8. RELN gene 
    ... Michelucci R, Nobile C. Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. Am J Hum Genet. 2015 Jun 4;96(6):992-1000. doi: 10.1016/j.ajhg.2015.04.020. Citation on ...
    https://medlineplus.gov/genetics/gene/reln - Genetics
  9. DYRK1A gene 
    ... AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  10. 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. Citation on PubMed
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
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