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Results 41 - 50 of 126 for Intellectual "disability," autosomal dominant 3
  1. PURA syndrome 
    ... 3):1-7. doi: 10.4161/cc.8.3.7585. Epub 2009 Feb 10. Citation on PubMed or Free article on PubMed Central
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  2. Familial focal epilepsy with variable foci 
    ... have an identified mutation in any of these three genes. The cause of the condition in these individuals is unknown. DEPDC5 NPRL2 NPRL3 FFEVF is inherited in an autosomal dominant pattern, which means one copy of an altered ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  3. Gorlin syndrome 
    ... symptoms of Gorlin syndrome in people with 9q22.3 microdeletions. Affected individuals also have features that are not typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical ...
    https://medlineplus.gov/genetics/condition/gorlin-syndrome - Genetics
  4. Darier disease 
    ... keratosis follicularis. Int J Dermatol. 2005 Mar;44(3):184-92. doi: 10.1111/j.1365-4632.2004.02408.x. No abstract available. Citation on PubMed Szigeti R, Kellermayer R. Autosomal-dominant calcium ATPase disorders. J Invest Dermatol. 2006 Nov; ...
    https://medlineplus.gov/genetics/condition/darier-disease - Genetics
  5. 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
  6. Apert syndrome 
    ... syndrome range from normal to mild or moderate intellectual ... the feet. Most commonly, three digits on each hand and foot are fused ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  7. Wolff-Parkinson-White syndrome 
    ... weakens the heart and skeletal muscles and causes intellectual disability), and tuberous sclerosis complex (a condition that results in the growth of noncancerous tumors in many parts of the body). Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people worldwide.Wolff-Parkinson-White ...
    https://medlineplus.gov/.../condition/wolff-parkinson-white-syndrome - Genetics
  8. Brain-lung-thyroid syndrome 
    ... lung-thyroid syndrome. It is unclear why all three organs are affected in some individuals with the condition, while only one or two are affected in others. NKX2-1 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/.../condition/brain-lung-thyroid-syndrome - Genetics
  9. 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
  10. Costello syndrome 
    ... called the RAS/MAPK signaling pathway, so these three conditions are sometimes referred to as RASopathies. These ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
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