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Results 1 - 10 of 10 for Intellectual "disability," "X-linked" 49
  1. ... 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- ...
  2. Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively ...
  3. ... associated with some cases of moderate to severe X-linked intellectual disability without other features of the syndromes described above. ...
  4. ... 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 ...
  5. Lesch-Nyhan Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Metabolic Disorders/Specifics ... Metabolic Disorders ... Find symptoms and other information about Lesch- ...
  6. ... 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 ...
  7. ... 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 ...
  8. ... 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 ...
  9. ... Although intelligence is typically unaffected, some individuals have intellectual disability.People with focal dermal hypoplasia have skin abnormalities ...
  10. Exercising with a Muscle Disease (Muscular Dystrophy Association) - PDF  
    muscular dystrophy; exercise with a disability; neuromuscular disease; adapted exercise; accesible sports equipment; power wheelchair; power soccer