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Intellectual "disability," autosomal dominant 51
- ... disorder SETBP1-related intellectual disability Genetic Testing Registry: Intellectual disability, autosomal dominant 29 Intellectual developmental disorder, autosomal dominant 29 National ...
- ... 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 ...
- ... 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 ...
- ... 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
- ... 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 ...
- ... 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): ...
- ... characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition ... cause is often not identified in people with intellectual disability, so this condition is likely underdiagnosed. Koolen-de ...
- 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 ...
- ... same family. Affected individuals may have developmental delay, intellectual disability, slow growth leading to short stature, and weak ... with the duplication have no apparent physical or intellectual disabilities. The prevalence of the 22q11.2 duplication in ...
- ... gene, the condition is considered to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene ...
