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  1. Phelan-McDermid Syndrome-SHANK3 Related - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1198
    ... Deficient expression/function of maternally inherited UBE3A allele Angelman syndrome Depends on mechanism leading to loss of UBE3A ... P, Wu W, Xie J. Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: a report of 21 cases from a medical ...
  2. Chromosome 15 
    https://medlineplus.gov/genetics/chromosome/15
    ... involved in conditions called Prader-Willi syndrome and Angelman syndrome (described below). Individuals with a15q11.2-q13.1 duplication will develop the signs and symptoms of dup15q syndrome only if the chromosome abnormality ...
  3. MBD5 Haploinsufficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK390803
    ... dysregulation of other autism-associated genes including UBE3A ( Angelman syndrome ), RAI1 ( Smith-Magenis syndrome ), TCF4 ( Pitt-Hopkins syndrome ), ... not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014;164A:975- ...
  4. Smith-Magenis Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1310
    ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. Speech-language delay Strabismus Scoliosis ... to diagnosis) are recommended. Table 4. Smith-Magenis Syndrome: Recommended Evaluations Following Initial ... in own window System/Concern Evaluation Comment ...
  5. Christianson syndrome 
    https://medlineplus.gov/genetics/condition/christianson-syndrome
    ... gene but usually does not experience signs and symptoms of the disorder. Occasionally, ... Angelman-like syndrome, X-linked Intellectual deficit, X-linked, South African ...
  6. MBD5-associated neurodevelopmental disorder 
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder
    ... a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014 Nov 3;2(1):e967151. doi: 10.4161/2167549X.2014.967151. eCollection 2014. Erratum In: doi: 10.15252/emmm.201404044. Citation on PubMed or Free article on PubMed Central
  7. Prader-Willi syndrome 
    https://medlineplus.gov/genetics/condition/prader-willi-syndrome
    ... imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. ...
  8. TCF4 gene 
    https://medlineplus.gov/genetics/gene/tcf4
    ... CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010 Sep;78( ...
  9. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X10
    ... 112 [Discussion] 131-4. MENIERE SYNDROME 680 MENIERE SYNDROME ---- Diagnosis. Atkinson, M. Diagnosis and treatment of Meniere's -yrwlrome. ... 1944, 40:38-43.—Clark, R.J. Meniere's syndrome; differential diagnosis and treatment ; c:i>e report. N. England ...
  10. Resources for Genetics Professionals — Epigenetic Signature Analysis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK550348
    ... 2-q13 Paternal hypermethylation due to imprinting defect Angelman syndrome Maternal 15q11.2-q13 deletion Paternal UPD of ... Table 3 (e.g., CHD7 disorder and Kabuki syndrome) [ Butcher et al ... only been reported for the diagnosis of disorders that have a known distinct genome- ...
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