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Results 1 - 10 of 224 for Chromosome 17 disorder
  1. Chromosome 17 
    ... 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 ...
    https://medlineplus.gov/genetics/chromosome/17 - Genetics
  2. Frontotemporal dementia with parkinsonism-17 
    ... 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). ...
    https://medlineplus.gov/...ntotemporal-dementia-with-parkinsonism-17 - Genetics
  3. Smith-Magenis syndrome 
    Smith-Magenis syndrome is a developmental disorder that affects behavior, emotions, and learning processes. The major features of this condition include distinctive ...
    https://medlineplus.gov/genetics/condition/smith-magenis-syndrome - Genetics
  4. Miller-Dieker syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/miller-dieker-syndrome - Genetics
  5. Yuan-Harel-Lupski syndrome 
    ... 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 ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  6. PMP22 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/pmp22 - Genetics
  7. Potocki-Lupski syndrome 
    ... 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 ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  8. RNF213 gene 
    ... changes may be necessary for development of moyamoya disease. More About This Health Condition ALK lymphoma oligomerization partner on chromosome 17 ALO17 C17orf27 E3 ubiquitin-protein ligase RNF213 KIAA1554 ...
    https://medlineplus.gov/genetics/gene/rnf213 - Genetics
  9. Charcot-Marie-Tooth disease 
    ... from a small duplication of genetic material on chromosome 17. Another 10 to 12 percent of individuals with CMT1 have mutations in the MPZ gene. MPZ gene mutations are also occasionally identified in people with other forms of the disorder. The most common cause of CMT2 is mutations ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics
  10. 48,XXXY syndrome 
    ... infertile. 48,XXXY syndrome affects between 1 in 17,000 and 1 in 50,000 newborn boys. It is a relatively uncommon sex chromosome disorder, which is a group of conditions caused by ...
    https://medlineplus.gov/genetics/condition/48xxxy-syndrome - Genetics
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