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ENEmanuel Syndrome
Alias:
Supernumerary Der(22)t(11;22) Syndrome
Supernumerary Der(22) Syndrome
Der(22)t(11;22) Syndrome
Der(22) Syndrome Due to 3:1 Meiotic Disjunction Events
Supernumerary Derivative 22 Chromosome Syndrome
Supernumerary Der(22)t(11
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Emanuel Syndrome, also known as supernumerary der(22)t(11;22) syndrome, is related to ventricular septal defect and microcephaly, and has symptoms including constipation and seizures. An important gene associated with Emanuel Syndrome is DER22T11-22 (Emanuel Syndrome). Affiliated tissues include kidney and heart, and related phenotypes are global developmental delay and intellectual disability
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