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Results 1 - 10 of 21 for Intellectual "disability," autosomal dominant 51
  1. SETBP1 haploinsufficiency disorder 
    ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  2. ADNP syndrome 
    ... autism spectrum disorder ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Helsmoortel-van der Aa syndrome HVDAS Mental retardation, autosomal dominant 28 MRD28 Genetic Testing Registry: ADNP-related multiple ...
    https://medlineplus.gov/genetics/condition/adnp-syndrome - Genetics
  3. Saethre-Chotzen syndrome 
    ... affected children are much more likely to have intellectual disability, developmental delay, and learning ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  4. CHD2 myoclonic encephalopathy 
    ... with myoclonic-atonic seizures. Epilepsy Behav. 2015 Oct;51:53-6. doi: 10.1016/j.yebeh.2015.06.029. Epub 2015 Aug 7. Citation on PubMed
    https://medlineplus.gov/.../condition/chd2-myoclonic-encephalopathy - Genetics
  5. Cantú syndrome 
    ... Med Genet. 1997 Mar 17;69(2):138-51. doi: 10.1002/(sici)1096-8628(19970317)69:23.0.co;2-l. Citation on PubMed Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. Am ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  6. Familial focal epilepsy with variable foci 
    ... foci. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar ... of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 May;45(5): ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  7. Koolen-de Vries syndrome 
    ... syndrome Chromosome 17q21.31 microdeletion syndrome KANSL1-related intellectual disability syndrome KDVS Koolen syndrome Microdeletion 17q21.31 syndrome ...
    https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome - Genetics
  8. PURA syndrome 
    PURA syndrome is a condition characterized by intellectual disability and delayed development of speech and motor skills, such as walking. Expressive language skills (vocabulary and the production of speech) are generally more ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  9. Chromosome 22 
    ... 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. Additional genes ... disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  10. Cornelia de Lange syndrome 
    ... before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities ... those with HDAC8 gene variants may have significant intellectual disability.In about 15 percent of cases, the cause ...
    https://medlineplus.gov/.../condition/cornelia-de-lange-syndrome - Genetics
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