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Intellectual "disability," "X-linked" 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. ...
- ... 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 ...
- ... 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. ...
- ... 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 ( ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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 ...
- ... 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]. ...
- ... 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 ...
