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ENChromosome 17q11.2 Deletion Syndrome
Alias:
Nf1 Microdeletion Syndrome
Neurofibromatosis Type 1 Microdeletion Syndrome
17q11 Microdeletion Syndrome
Monosomy 17q11
Del(17)(q11)
Van Asperen Syndrome
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Chromosome 17q11.2 Deletion Syndrome, also known as nf1 microdeletion syndrome, is related to neurofibromatosis, type i and neurofibromatosis. An important gene associated with Chromosome 17q11.2 Deletion Syndrome is NF1 (Neurofibromin 1). Affiliated tissues include skin and eye, and related phenotypes are multiple cafe-au-lait spots and freckling
Related ID：
MESH：C563524
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MALACARDS
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