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Results 1 - 10 of 13 for Intellectual "disability," autosomal dominant 53
  1. SYNGAP1-related intellectual disability 
    ... retardation, autosomal dominant 5 MRD5 Genetic Testing Registry: Intellectual disability, autosomal dominant 5 Intellectual developmental disorder, autosomal dominant 5 National ...
    https://medlineplus.gov/.../syngap1-related-intellectual-disability - Genetics
  2. CHD2 myoclonic encephalopathy 
    ... 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
  3. Cantú syndrome 
    ... I, Bitar WE, de Lourdes Ramirez-Duenas M. Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct 23;94(5):421-7. doi: 10.1002/1096-8628(20001023)94:53.0.co;2-9. Citation on PubMed Robertson ...
    https://medlineplus.gov/genetics/condition/cantu-syndrome - Genetics
  4. 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
  5. Polymicrogyria 
    ... affects the entire brain. This condition causes severe intellectual disability, problems with movement, and seizures that are difficult ... a feature of several genetic syndromes characterized by intellectual disability and multiple birth defects. These include 22q11.2 ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  6. Sotos syndrome 
    ... normal range.People with Sotos syndrome often have intellectual disability, and most also have neurodevelopmental disorders. Conditions that ... helped researchers determine that Sotos syndrome has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one ...
    https://medlineplus.gov/genetics/condition/sotos-syndrome - Genetics
  7. Familial focal epilepsy with variable foci 
    ... DEPDC5 NPRL2 NPRL3 FFEVF is inherited in an autosomal dominant pattern, which means one copy of an altered ... Citation on PubMed Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. ...
    https://medlineplus.gov/...amilial-focal-epilepsy-with-variable-foci - Genetics
  8. Charcot-Marie-Tooth disease 
    ... and most intermediate forms are inherited in an autosomal dominant pattern. This pattern of inheritance means that one ... mild symptoms of the disorder.Some cases of autosomal dominant or type X Charcot-Marie-Tooth disease result ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  9. 22q13.3 deletion syndrome 
    ... syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome ...
    https://medlineplus.gov/genetics/condition/22q133-deletion-syndrome - Genetics
  10. Isolated lissencephaly sequence 
    ... microcephaly). This underdevelopment of the brain causes severe intellectual disability, delayed development, and recurrent seizures (epilepsy) in individuals ...
    https://medlineplus.gov/.../isolated-lissencephaly-sequence - Genetics
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