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Results 1 - 8 of 8 for Intellectual "disability," "X-linked" 49
  1. HDAC8 gene 
    ... a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012- ...
    https://medlineplus.gov/genetics/gene/hdac8 - Genetics
  2. Alpha thalassemia X-linked intellectual disability syndrome 
    Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  3. MECP2 gene 
    ... associated with some cases of moderate to severe X-linked intellectual disability without other features of the syndromes described above. ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  4. X chromosome 
    ... 48,XXYY syndrome. More About This Health Condition 49,XXXXY syndrome is a chromosomal condition that causes intellectual disabilities, developmental delays (especially in speech and language), changes ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  5. CDKL5 deficiency disorder 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/cdkl5-deficiency-disorder - Genetics
  6. Intestinal pseudo-obstruction 
    ... in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.When ... is present in patients with FLNA mutations and x-linked intestinal pseudo-obstruction. ... doi: 10.1038/ejhg.2015.49. Epub 2015 Mar 18. Citation on PubMed or ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  7. Fragile X syndrome 
    ... with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are ... children with an FMR1 premutation may have learning disabilities or autistic-like behavior. The premutation is ... Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked ...
    https://medlineplus.gov/genetics/condition/fragile-x-syndrome - Genetics
  8. Focal dermal hypoplasia 
    ... Although intelligence is typically unaffected, some individuals have intellectual disability.People with focal dermal hypoplasia have skin abnormalities ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics