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Results 1 - 9 of 9 for Intellectual "disability," autosomal dominant 3
  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. 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 ...
    https://medlineplus.gov/genetics/gene/msx1 - Genetics
  3. GCH1 gene 
    ... 63.11.1605. Citation on PubMed Segawa M. Autosomal dominant GTP ... Curr Drug Metab. 2002 Apr;3(2):123-31. doi: 10.2174/1389200024605145. Citation ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  4. ELN gene 
    ... 81. doi: 10.1016/s1050-1738(03)00065-3. Citation on PubMed Callewaert ... of autosomal-dominant cutis laxa with report of five ELN mutations. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  5. TBC1D24 gene 
    ... Black-Ziegelbein EA, Smith RJ. TBC1D24 mutation causes autosomal-dominant ... Genet C Semin Med Genet. 2014 Sep;166C(3):327-32. doi: 10.1002/ajmg.c.31412. ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
  6. 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
  7. KIF21A gene 
    ... ptosis). In addition, people with CFEOM3 can have intellectual disability or other neurological problems.Each of the known ... FEOM FEOM1 Fibrosis of extraocular muscles, congenital, 1, autosomal dominant fibrosis of the extraocular muscles, congenital, 1 FLJ20052 ...
    https://medlineplus.gov/genetics/gene/kif21a - Genetics
  8. CACNA1A gene 
    ... an unusually large head size (macrocephaly), tall stature, intellectual disability, seizures, ataxia, and other health problems. Researchers are ... encephalopathy caused by CACNA1A gene variants often experience intellectual disability, ataxia, nystagmus, and weak muscle tone (hypotonia). Studies ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  9. WASHC5 gene 
    ... the structures that form the eye (coloboma), and intellectual disabilities. The condition is found primarily in the First ... B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics