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94 results
  1. 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 in ... episodic hyperventilation &/or breath holding while awake. UBE3A ... DiffDx = differential diagnosis; HSCR = Hirschsprung disease; ID = intellectual disability; MOI = mode ...
  2. Christianson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475801
    ... be associated with pathogenic variants in SLC9A6 . Differential Diagnosis Angelman syndrome (AS) is characterized by severe developmental delay or ...
  3. Angelman Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1144
    ... deletion. A normal head circumference should not exclude Angelman syndrome as a possible diagnosis [ Tan et al 2011 , Bindels-de Heus et ... See 15q Duplication Syndrome and Related Disorders . Differential Diagnosis Infants with Angelman syndrome (AS) commonly present with nonspecific psychomotor delay and/ ...
  4. Excluded Studies - Cerebral palsy in under 25s: assessment and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK533212
    ... of Medical Genetics, 101, 59-64, 2001 Population: Angelman syndrome, no differential diagnosis with CP. Wilson, J., Investigation of degenerative disease ...
  5. Angelman syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/angelman-syndrome
    ... gene does not cause the other signs and symptoms of Angelman syndrome. The protein produced from this gene helps determine ...
  6. MECP2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/mecp2
    ... the features of Rett syndrome and signs and symptoms similar to Angelman syndrome (a condition characterized by intellectual disability, problems with ...
  7. UBE3A gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/ube3a
    ... enzyme function likely causes the major signs and symptoms of Angelman syndrome. Other abnormalities involving the region of chromosome 15 ...
  8. Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1330
    ... DJ. DNA methylation analysis with respect to prenatal diagnosis of the Angelman and Prader-Willi syndromes and imprinting. Prenat Diagn. 2000;20:300-6. [ ...
  9. Kleefstra Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK47079
    ... would be very unusual in an individual with Angelman syndrome. 4. Koemans et al [2017] 5. The diagnosis of MBD5 haploinsufficiency is established in a proband ...
  10. Movement Disorders | MedlinePlus 
    https://medlineplus.gov/movementdisorders.html
    ... Nemours Foundation) Tourette Syndrome: A Not-So-Frightening Diagnosis (American Academy of Pediatrics) Patient Handouts Angelman syndrome (Medical Encyclopedia) Also in Spanish Chronic motor or ...
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