89 results

... al. Analysis of peripheral amyloid precursor protein in Angelman Syndrome. Am J Med Genet ... gender on neurodevelopmental symptoms: a twin register study. Mol Autism. 2016;7: ...

... leading to the loss of UBE3A function (see Angelman Syndrome ). ... Following Initial Diagnosis To establish the extent of disease and needs ...

... analysis of the 15q11.2 region (Prader-Willi/Angelman syndrome locus ) Any of the following ... the Diagnosis The diagnosis of Schaaf-Yang syndrome is established ...

... unexpected death in epilepsy; XL = X-linked 1. Angelman syndrome (AS) is associated ... Following Initial Diagnosis To establish the extent of disease and needs ...

... developmental delay; ID = intellectual disability; PWACR = Prader-Willi/Angelman critical region ; UPD = ... associated with maternal 15q duplication syndrome (maternal dup15q) are not sufficient for diagnosis. All ...

... of inheritance ; XL = X-linked 1. Individuals with Angelman syndrome typically ... Following Initial Diagnosis To establish the extent of disease and needs ...

... includes multiple disorders of different etiologies (e.g., Angelman syndrome, ... an “etiologic diagnosis,” that is, whether a patient who has an ...

... do not have retinal dystrophy. The mainstay of diagnosis is DNA-based methylation testing to ... syndrome (AS) is characterized by severe developmental delay or ...

... 3. Selected Disorders of Interest in the Differential Diagnosis of HNRNPH2 -Related Neurodevelopmental ... syndrome See footnote 1. DD/ID, speech delay, ataxic ...

... AR = autosomal recessive ; CK = creatine kinase; DiffDx = differential diagnosis; ... paternally derived PWS / Angelman syndrome region (15q11.2-q13) of chromosome 15 ...