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Results 1 - 10 of 15 for Myotonic syndrome
  1. Schwartz-Jampel syndrome 
    ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  2. What do geneticists mean by anticipation?: MedlinePlus Genetics 
    ... the nervous system, such as Huntington's disease , myotonic dystrophy , and fragile X syndrome . Anticipation typically occurs with disorders that are caused ...
    https://medlineplus.gov/.../understanding/inheritance/anticipation - Genetics
  3. HSPG2 gene 
    ... mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia. Am J Hum Genet. 2002 ...
    https://medlineplus.gov/genetics/gene/hspg2 - Genetics
  4. Polyhydramnios 
    ... and nervous system problems, such as anencephaly and myotonic dystrophy Achondroplasia Beckwith-Wiedemann syndrome It can also happen if the mother has ...
    https://medlineplus.gov/ency/article/003267.htm - Medical Encyclopedia
  5. Genetic Disorders From the National Institutes of Health (National Human Genome Research Institute)  
    Genetic Disorders/Start Here ... Genetic Disorders ... National Human Genome Research Institute ... From the National Institutes of Health ... A list of genetic, orphan and ...
    https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders - External Health Links
  6. Myotonic dystrophy 
    Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  7. Pilomatricoma 
    ... polyps) and cancers of the colon and rectum; myotonic dystrophy, which is a form of muscular dystrophy; and Rubinstein-Taybi syndrome, which is a condition that affects many parts ...
    https://medlineplus.gov/genetics/condition/pilomatricoma - Genetics
  8. Infertility: Frequently Asked Questions (Centers for Disease Control and Prevention)  
    Infertility/Start Here ... Infertility ... Centers for Disease Control and Prevention ... Answers to common questions about infertility, including misconceptions, risks, ...
    https://www.cdc.gov/reproductive-health/infertility-faq - External Health Links
  9. Find a Neuromuscular Disease (Muscular Dystrophy Association)  
    Neuromuscular Disorders/Start Here ... Neuromuscular Disorders ... Muscular Dystrophy Association ... MDA is the #1 health nonprofit advancing research, care and advocacy ...
    https://www.mda.org/disease/list - External Health Links
  10. 15q11-q13 duplication syndrome 
    ... seizures, these can include rapid uncontrolled muscle jerks (myotonic ... Lennox-Gastaut syndrome. Seizures can lead to falls, loss of developmental ...
    https://medlineplus.gov/.../condition/15q11-q13-duplication-syndrome - Genetics
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