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Results 1 - 10 of 3,171 for case syndrome
  1. Chromosome 15 
    ... of chromosome 15. In a small percentage of cases, Angelman syndrome is caused by a chromosomal rearrangement (translocation) or ... called genomic imprinting.In about 70 percent of cases, Prader-Willi syndrome occurs when the 15q11-q13 region of the ...
    https://medlineplus.gov/genetics/chromosome/15 - Genetics
  2. Angelman syndrome 
    ... the UBE3A gene.In a small percentage of cases, Angelman syndrome results when a person inherits two copies of ... hair, and eyes. OCA2 UBE3A chromosome 15 Most cases of Angelman syndrome are not inherited, particularly those caused by a ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  3. Marfan syndrome 
    ... covering the spinal cord The joints In most cases, Marfan syndrome is passed down through families (inherited). However, up ... family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new ...
    https://medlineplus.gov/ency/article/000418.htm - Medical Encyclopedia
  4. WAGR syndrome 
    ... of the disorder in their family. In rare cases, WAGR syndrome is inherited. In these cases, a parent who does not have the signs ... KL, Lewis J, Luis CA, Sika M. WAGR syndrome: a clinical review of 54 cases. Pediatrics. 2005 Oct;116(4):984-8. doi: ...
    https://medlineplus.gov/genetics/condition/wagr-syndrome - Genetics
  5. Poland syndrome 
    ... also be difficult to detect unless measured.Mild cases of Poland syndrome without hand involvement may not be evident until ... may also be involved in this disorder.Rare cases of Poland syndrome are thought to be caused by a genetic ...
    https://medlineplus.gov/genetics/condition/poland-syndrome - Genetics
  6. UBE3A gene 
    ... deleted. In another 10 to 20 percent of cases, Angelman syndrome results from variants within the UBE3A gene itself. ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  7. Reported Cases of Hantavirus Disease (Centers for Disease Control and Prevention)  
    ... of exposure, reporting state, state of residence, international cases, Hantavirus Pulmonary Syndrome (HPS)
    https://www.cdc.gov/hantavirus/surveillance - External Health Links
  8. Brown Syndrome (American Association for Pediatric Ophthalmology and Strabismus)  
    Eye Movement Disorders/Specifics ... Eye Movement Disorders ... American Association for Pediatric Ophthalmology and Strabismus ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
    https://www.aapos.org/glossary/brown-syndrome - External Health Links
  9. Kabuki syndrome 
    ... KDM6A gene.Between 55 and 80 percent of cases of Kabuki syndrome are caused by variants in the KMT2D gene. ... for development.Between 2 and 6 percent of cases of Kabuki syndrome are caused by variants in the KDM6A gene. ...
    https://medlineplus.gov/genetics/condition/kabuki-syndrome - Genetics
  10. 15q11-q13 duplication syndrome 
    ... the duplicated segment.In about 20 percent of cases of dup15q syndrome, the duplication occurs on the long (q) arm ... three copies of the duplicated segment.In all cases of dup15q syndrome, the duplicated genetic material results in extra copies ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
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