Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 9 of 9 for Mental "retardation," autosomal dominant 8
  1. DYRK1A gene 
    The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which ...
    https://medlineplus.gov/genetics/gene/dyrk1a - Genetics
  2. 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
  3. GCH1 gene 
    ... Hanna MG, Davis MB, Wood NW, Bhatia KP. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009 Aug;80(8):839-45. doi: 10.1136/jnnp.2008.155861. ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  4. ELN gene 
    ... 827-31. doi: 10.1007/s00246-005-0885-8. Citation on PubMed Rodriguez-Revenga L, Iranzo P, Badenas C, Puig S, Carrio A, Mila M. A novel elastin gene mutation resulting in an autosomal dominant form of cutis laxa. Arch Dermatol. 2004 Sep; ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  5. 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
  6. MSX1 gene 
    ... Lin BP, Hu JC. Novel MSX1 frameshift causes autosomal-dominant oligodontia. J ... 2002 Apr;81(4):274-8. doi: 10.1177/154405910208100410. Citation on PubMed or ...
    https://medlineplus.gov/genetics/gene/msx1 - Genetics
  7. FBN1 gene 
    ... V. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani ... Jul 28;262(4):523-8. Citation on PubMed Le Goff C, Mahaut C, ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  8. TBC1D24 gene 
    ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. Hum Mutat. 2014 Jul;35( ... Y, Pang X, Yang T, Wu H. A dominant mutation in the stereocilia-expressing ... Hum Mutat. 2014 Jul;35(7):814-8. doi: 10.1002/humu.22558. Epub 2014 May ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  9. CACNA1A gene 
    ... Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics