- ... linked intellectual developmental disorders Classic Rett syndrome and Angelman syndrome can be considered in individuals presenting with stereotypic ... expression or function of maternally inherited UBE3A allele Angelman syndrome See footnote 1. ID, DD, severe speech impairment, ...
- ... Margolis SS, Sell GL, Zbinden MA, et al. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641–50. doi: ... et al. The neurobehavioral and molecular phenotype of Angelman Syndrome. Am J Med Genet A. 2015 Nov;167( ...
- ... Margolis SS, Sell GL, Zbinden MA, et al. Angelman Syndrome. Neurotherapeutics. 2015 Jul;12(3):641–50. doi: ... et al. The neurobehavioral and molecular phenotype of Angelman Syndrome. Am J Med Genet A. 2015 Nov;167( ...
- ... based gait that can sometimes be confused with Angelman syndrome. Diagnosis/testing. The diagnosis of classic MWS is ... awake. UBE3A (disruption of maternally inherited UBE3A allele ) Angelman syndrome See footnote 3. Absent speech Hypopigmentation Seizures Microcephaly ...
- ... childhood, many children with SAS are tested for Angelman syndrome and related disorders. Over time, the emergence of ... or function of maternally inherited UBE3A allele ) 2 Angelman syndrome See footnote 2. Severe DD or ID; severe ...
- ... than in KdVS. Disruption of maternally imprinted UBE3A Angelman syndrome (AS) See footnote 2. Severe DD/ID; severe ... of imprinted genes in the paternally derived PWS/Angelman syndrome (AS) region (i.e., 15q11.2-q13) of ...
- ... 037 Akathisia, Drug-Induced C10.228.662.075 Angelman Syndrome C10.228.662.262 Dyskinesias C10.228.662. ... 077.065 Alagille Syndrome C16.131.077.095 Angelman Syndrome C16.131.077.121 Barth Syndrome C16.131. ...
- ... 18p minus syndrome 18q minus syndrome Alagille syndrome Angelman syndrome Charcot-Marie-Toothe syndrome Conotruncal anomaly face syndrome ... developmental disorder’ or ‘PDD’ 14 Specific syndromes (original) ‘angelman syndrome’/exp OR ‘happy puppet’ OR ‘prader-willi’/exp ...
- ... topic><topic ><url >https://medlineplus.gov/genetics/condition/angelman-syndrome</url><title >Angelman syndrome</title><other_names ><other_name >AS</other_name></ ...
- ... based on key stakeholders’ interest. These syndromes include Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, ... includes multiple disorders of different etiologies (e.g., Angelman syndrome, fragile X syndrome, Prader-Willi syndrome, Rett syndrome, ...