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Results 1 - 10 of 10 for Angelman syndrome
  1. Angelman syndrome 
    Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition ... symptoms usually appear in early childhood.Children with Angelman syndrome typically have a happy, excitable demeanor with frequent ...
    https://medlineplus.gov/genetics/condition/angelman-syndrome - Genetics
  2. UBE3A gene 
    ... likely causes many of the characteristic features of Angelman syndrome, a complex genetic disorder that primarily affects the ... or delete the UBE3A gene. Most cases of Angelman syndrome (about 70 percent) occur when a segment of ...
    https://medlineplus.gov/genetics/gene/ube3a - Genetics
  3. Christianson syndrome 
    ... retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet. 2008 Apr;82(4): ... SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. Am J Med Genet B Neuropsychiatr Genet. 2011 ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  4. MBD5-associated neurodevelopmental disorder 
    MBD5-associated neurodevelopmental disorder (MAND) is a condition that affects neurological and physical development.Children with MAND have mild to severe ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - Genetics
  5. Chromosome 15 
    ... involved in conditions called Prader-Willi syndrome and Angelman syndrome (described below). Dup15q syndrome arises only if the ... acute promyelocytic leukemia. More About This Health Condition Angelman syndrome results from a loss of gene activity (expression) ...
    https://medlineplus.gov/genetics/chromosome/15 - Genetics
  6. OCA2 gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/oca2 - Genetics
  7. MECP2 gene 
    ... Rett syndrome and signs and symptoms similar to Angelman syndrome (a condition characterized by intellectual disability, problems with ... MRX79 PPMX RTS RTT Tests of MECP2 PubMed ANGELMAN SYNDROME; AS AUTISM METHYL-CpG-BINDING PROTEIN 2; MECP2 ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  8. Prader-Willi syndrome 
    ... imprinted transcripts in the Prader-Willi syndrome and Angelman syndrome deletion region: further evidence for regional imprinting control. ...
    https://medlineplus.gov/genetics/condition/prader-willi-syndrome - Genetics
  9. What are genomic imprinting and uniparental disomy?: MedlinePlus Genetics 
    ... is characterized by uncontrolled eating and obesity, and Angelman syndrome , which causes intellectual disability and impaired speech. Both ...
    https://medlineplus.gov/.../understanding/inheritance/updimprinting - Genetics
  10. TCF4 gene 
    ... CE. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010 Sep;78( ...
    https://medlineplus.gov/genetics/gene/tcf4 - Genetics