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DYT-KMT2B


Title


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Other Names:
KMT2B-Related Dystonia; Dystonia-28; DYT28; KMT2B-Related Dystonia; Dystonia-28; DYT28; Childhood-onset dystonia-28 See More

Symptoms Symptoms


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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 18 |
Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
0000496
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Global developmental delay 0001263
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Motor delay 0001270
Myoclonus 0001336
Short stature
Decreased body height
Small stature
[ more ]
0004322
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bulbous nose 0000414
Dysarthria
Difficulty articulating speech
0001260
Incomplete penetrance 0003829
Laryngeal dystonia 0012049
Oromandibular dystonia 0012048
Progressive
Worsens with time
0003676
Retrocollis 0002544
Toe walking
Toe-walking
0040083
Showing of 18 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Dystonia Society
    89 Albert Embankment
    London, SE1 7TP United Kingdom
    Telephone: 020 7793 3651 (general enquiries)
    E-mail: https://www.dystonia.org.uk/contact
    Website: https://www.dystonia.org.uk/
  • International Parkinson and Movement Disorder Society
    555 East Wells Street, Suite 1100
    Milwaukee, WI 53202-3823
    Telephone: +1-414-276-2145
    Fax: +1-414-276-3349
    E-mail: info@movementdisorders.org
    Website: https://www.movementdisorders.org/

Social Networking Websites

  • Visit the following Facebook groups related to DYT-KMT2B:
    KMT2B community
    Dystonia 28: Awareness and Support
Do you know of an organization? We want to hear from you.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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