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EN5q14.3 Microdeletion Syndrome
Alias:
Monosomy 5q14.3
Del(5)(q14.3)
Chromosome 5q14.3 Deletion Syndrome
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5q14.3 Microdeletion Syndrome, also known as monosomy 5q14.3, is related to febrile seizures and hypotonia. An important gene associated with 5q14.3 Microdeletion Syndrome is MEF2C (Myocyte Enhancer Factor 2C). Affiliated tissues include eye, and related phenotypes are seizure and hypotonia
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MALACARDS
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