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Results 1 - 10 of 316 for Chromosome 17 disorder
  1. ... small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a ...
  2. ... the MAPT gene. This gene is located on chromosome 17, which is how the disease got its name.The MAPT gene provides instructions ... Frontotemporal dementia Frontotemporal dementia National ... Boeve BF, Hutton M. Refining frontotemporal dementia with parkinsonism linked to chromosome 17: introducing FTDP-17 (MAPT) and FTDP-17 (PGRN). ...
  3. Neurofibromatosis (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Diseases/Related Issues ... Eye Diseases ... Neurofibromatosis/Specifics ... Neurofibromatosis ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, ...
  4. Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive ...
  5. ... that takes place in the STAT3 gene on chromosome 17. How this gene abnormality causes the symptoms of the disease is not well understood. However, people with the ...
  6. ... missing genetic material from the short arm of chromosome 17, which results in the health problems characteristic of this disorder. Classical lissencephaly syndrome MDS Miller-Dieker lissencephaly syndrome ...
  7. ... duplicated region contribute to other features of the disorder, such as kidney abnormalities. PMP22 RAI1 chromosome 17 YUHAL syndrome follows an autosomal dominant pattern of ...
  8. ... caused by a duplication of genetic material on chromosome 17 is the most common genetic change that causes Charcot-Marie-Tooth disease type 1A (CMT1A). The extra gene leads to ...
  9. ... likely also contribute to the features of this disorder; the role of these genes is under study. RAI1 chromosome 17 This condition has an autosomal dominant pattern of ...
  10. Charcot-Marie-Tooth Disease From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Charcot-Marie-Tooth Disease/Start Here ... Charcot-Marie-Tooth Disease ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of ...
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