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EN9q33.3q34.11 Microdeletion Syndrome
Alias:
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
Del(9)(q33.3q34.11)
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9q33.3q34.11 Microdeletion Syndrome, also known as deletion 9q33.3q34.11, is related to developmental and epileptic encephalopathy 4. An important gene associated with 9q33.3q34.11 Microdeletion Syndrome is LMX1B (LIM Homeobox Transcription Factor 1 Beta). Affiliated tissues include skin and bone, and related phenotypes are seizure and dysphagia
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MALACARDS
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