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Intellectual "disability," "X-linked" 14
- ... the X chromosome, this condition is known as X-linked intellectual disability (XLID) or sometimes nonsyndromic XLID. XLID can occur ... screening of ARX gene in Iranian families with X-linked intellectual disability. Arch Iran Med. 2012 Jun;15(6):361- ...
- ... 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 ...
- ... in the HSD17B10 gene causes a form of X-linked intellectual disability called MRXS10. This disorder is characterized by intellectual ...
- ... is important for normal brain development. At least 14 PQBP1 gene mutations have been identified in people with Renpenning syndrome, a disorder that occurs almost exclusively in males and causes intellectual disability and characteristic physical features. Most of the PQBP1 ...
- ... 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 ...
- ... Wanker EE, Kalscheuer VM. The X-chromosome-linked intellectual disability protein PQBP1 is a component of neuronal RNA ...
- ... 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 ...
- ... children with CDKL5 deficiency disorder. Most have severe intellectual disability and little or no speech. The development of ... syndrome. These conditions have common features, including seizures, intellectual disability, and other problems with development. However, the signs ...
