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Results 1 - 10 of 91 for Intellectual "disability," "X-linked" 1
  1. Developmental Disabilities (National Library of Medicine)  
    Developmental disabilities are severe, long-term problems. They may be physical, such as blindness. They may affect mental ability, such as learning disabilities. ...
  2. ... have low-set ears and large hands. While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence ...
  3. ... lissencephaly with abnormal genitalia, early infantile epileptic encephalopathy 1, and Partington syndrome (described above). Another is X-linked myoclonic epilepsy with intellectual disability and spasticity, which causes intellectual disability and epilepsy. ...
  4. ... paraplegia). Affected individuals also have mild to moderate intellectual disability. People with spastic paraplegia type 1 do not usually have major abnormalities in structures of the brain.X-linked complicated corpus callosum agenesis is defined by underdevelopment ( ...
  5. ... disorder has been estimated to account for between 1 and 2 percent of males with intellectual disability. Variants (also known as mutations) in the SLC6A8 gene cause X-linked creatine deficiency. The SLC6A8 gene provides instructions for ...
  6. ... RE, Pegg AE. Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28. Citation on PubMed Zhang ...
  7. ... changes result in the signs and symptoms of X-linked intellectual disability. 71-7A CXorf5 JBTS10 MGC117039 MGC117040 OFD1_HUMAN oral-facial-digital syndrome 1 SGBS2 Tests of OFD1 PubMed OFD1 CENTRIOLE AND ...
  8. ... of other genes normally regulated by the HCF-1 protein. More About This Health Condition Variants in the HCFC1 gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological ...
  9. ... syndrome. Am J Med Genet A. 2006 Jun 1;140(11):1172-6. doi: 10.1002/ajmg.a.31248. Citation on PubMed Stevenson RE. Alpha-Thalassemia X-Linked Intellectual Disability Syndrome. 2000 Jun 19 [updated 2020 May 28]. ...
  10. ... RE, Pegg AE. Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome). Methods Mol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28. Citation on PubMed Zhang ...
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