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EN17q24.2 Microdeletion Syndrome
Alias:
Del(17)(q24)
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17q24.2 Microdeletion Syndrome, also known as del(17)(q24), is related to non-specific syndromic intellectual disability. An important gene associated with 17q24.2 Microdeletion Syndrome is BPTF (Bromodomain PHD Finger Transcription Factor). Affiliated tissues include heart and pineal, and related phenotypes are delayed speech and language development and intellectual disability, mild
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Basic Information
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MALACARDS
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