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59 results
  1. Movement Disorders 
    https://medlineplus.gov/movementdisorders.html
    Movement disorders can be caused by nerve diseases, autoimmune diseases, infections and more. Many movement disorders are inherited. ... Movement disorders are neurologic ...
  2. Angelman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1144
    ... may contain more recent information. — ED. Table A. Angelman Syndrome: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1330
    ... Review posted live Spring 1997 (sc) Original submission ... analysis of Prader-Willi and Angelman syndromes. Eur J Hum Genet. 2019;27:1326-40. [ ...
  4. OCA2 gene 
    https://medlineplus.gov/genetics/gene/oca2
    ... 15 that is often deleted in individuals with Angelman syndrome. A loss of this gene does not cause the characteristic neurologic features of Angelman syndrome; however, people with this condition who are missing ...
  5. Developmental Disabilities 
    https://medlineplus.gov/developmentaldisabilities.html
    ... du Chat Syndrome (National Human Genome Research Institute) Angelman Syndrome (National Institute of Neurological Disorders and Stroke) Intellectual ... 1 deficiency: MedlinePlus Genetics (National Library of Medicine) ... (National Library of Medicine) Aspartylglucosaminuria: MedlinePlus ...
  6. Christianson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475801
    ... common, and may resemble the behaviors observed in Angelman syndrome. Hypotonia and oropharyngeal dysphagia in infancy may result ... spectrum disorder (ASD) and behaviors typically associated with Angelman syndrome . Of note, approximately one third of those with ...
  7. Search strategies for the identification of clinical studies - Mental health of adults in contact with the criminal ... 
    https://www.ncbi.nlm.nih.gov/books/NBK533131
    ... delay*).ti,ab. *down syndrome/ 13 use emez angelman syndrome/ or down syndrome/ or fragile x syndrome/ 15 ... 23 down syndrome/ 24 23 use emez 25 angelman syndrome/ or down syndrome/ or fragile x syndrome/ 26 ...
  8. Maternal 15q Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK367946
    ... of function of the maternally contributed UBE3A allele Angelman syndrome : distinctive facial features, severe ID, profound expressive language ... in this region UBE3A , the gene implicated in Angelman syndrome, is also thought to be the primary gene ...
  9. Search strategies for the identification of clinical studies - Mental Health Problems in People with Learning ... 
    https://www.ncbi.nlm.nih.gov/books/NBK401806
    ... 13 *down syndrome/ 14 13 use emez 15 angelman syndrome/or down syndrome/or fragile x syndrome/ 16 ... 20 *down syndrome/ 21 20 use emez 22 angelman syndrome/or down syndrome/or fragile x syndrome/ 23 ...
  10. Mowat-Wilson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1412
    ... based gait that can sometimes be confused with Angelman syndrome. Diagnosis/testing. The diagnosis of MWS is established ... episodic hyperventilation &/or breath holding while awake. UBE3A Angelman syndrome See footnote 3. Absent speech, hypopigmentation, seizures, microcephaly, ...
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