2q13 copy number variation syndrome (Homo sapiens)
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Description
The 2q13 copy number variation syndrome can result in the loss of up to 25 protein-coding genes. Patients with 2q13 deletions and duplications had abnormal head size and dysmorphic features. 2q13 duplications also caused developmental delay. The abnormal head size in 2q13 could be explained by the changes in FBLN7 gene. At the same time, neuropsychiatric impairment in 2q13 may be associated with BCL2L11, ANAPC1, SLC1A1 and MERTK alterations.
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