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Intellectual "disability," "X-linked" 92
- ... TG, de Brouwer AP. Mutations in MED12 cause X-linked Ohdo syndrome. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Citation on PubMed or Free article on PubMed Central
- ... gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological problems but do not show other features of methylmalonic acidemia with ... features of X-linked disability, but does not severely impact vitamin B12 ...
- ... 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 ( ...
- ... hypotonia), sagging facial features, seizures, developmental delay, and ... syndrome (sometimes called X-linked cutis laxa) is a less severe form of ...
- ... the brain disrupts normal brain development, resulting in intellectual disability and problems with ... This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked ...
- ... involvement of FMRP and FMR2P. Biochimie. 2010 Aug;92(8):919-26. doi: ... pathology of FRAXE intellectual disability. Hum Mol Genet. 2011 May 15;20(10): ...
- ... used for movement, called skeletal muscles (myopathy); and intellectual disabilities. People with Danon disease may develop the condition ... disease who have one Y chromosome have mild intellectual disabilities, but this is much less common in affected ...
- ... to cause FG syndrome, which is characterized by intellectual disability, behavioral problems, and physical abnormalities including weak muscle ... is unclear how the genetic changes lead to intellectual disability and the other features of FG syndrome. More ...
- ... of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills ... disease may have developmental delay, learning problems, or intellectual disability, but they do not experience developmental regression. Some ...
- ... People with L1 syndrome often have brain abnormalities, intellectual disability, and movement problems. The L1CAM gene mutations that ... Splicing Mutation in the L1CAM Gene Responsible for X-Linked Hydrocephalus ... L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6. doi: 10.1002/(sici)1096- ...
