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EN2q31.1 Microdeletion Syndrome
Alias:
Monosomy 2q31.1
Del(2)(q31.1)
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2q31.1 Microdeletion Syndrome, also known as monosomy 2q31.1, is related to coloboma of macula and split-hand/foot malformation 1. Affiliated tissues include hypothalamus and pituitary, and related phenotypes are intellectual disability and global developmental delay
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Basic Information
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MALACARDS
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MGI
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