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Results 1 - 7 of 7 for Intellectual "disability," autosomal dominant 9
  1. 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
  2. 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. ...
    https://medlineplus.gov/genetics/gene/eln - Genetics
  3. 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 ...
    https://medlineplus.gov/genetics/gene/washc5 - Genetics
  4. 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
  5. GCH1 gene 
    ... GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and ... 2009 Feb 9. Citation on PubMed Muller U, Steinberger D, Topka ...
    https://medlineplus.gov/genetics/gene/gch1 - Genetics
  6. 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
  7. 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