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Intellectual "disability," "X-linked" 91
- ... gene have also been found in individuals with X-linked intellectual disability. These individuals have delayed development and other neurological ... A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. Am J Hum Genet. 2012 Oct 5;91(4):694-702. doi: 10.1016/j.ajhg. ...
- ... retardation syndrome Trisomy Xq28 Genetic Testing Registry: Syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome National Organization ...
- ... 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 ...
- ... mutation has also been found to cause an X-linked retinal disorder in a large ... disability. The CACNA1F mutation associated with this condition alters ...
- ... XXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays, physical differences, and an inability to ... XXXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays (especially in speech and language), changes ...
- ... over, and babbling. Most affected individuals also have intellectual disability throughout their lives. Infantile spasms are estimated to ... disrupt normal brain development, leading to seizures and intellectual disability.It is likely that mutations in other genes ...
- ... People with L1 syndrome often have brain abnormalities, intellectual disability, and movement problems. The L1CAM gene mutations that ... PubMed L1 CELL ADHESION MOLECULE; L1CAM HYDROCEPHALUS, ... of L1CAM variants located to the two N-terminal Ig-like domains. Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. ...
- ... sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and ... deficiency. Hum Genet. 2002 Feb;110(2):187-91. doi: 10.1007/s00439-001-0665-3. Epub ... in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, ...
- ... muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or intellectual disability.A key feature of centronuclear myopathy is the ...
