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EN14q11.2 Microduplication Syndrome
Alias:
14q11.2 Microduplication
Trisomy 14q11.2
Dup(14)(q11.2)
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14q11.2 Microduplication Syndrome, also known as 14q11.2 microduplication, is related to autism spectrum disorder and cerebellar atrophy, developmental delay, and seizures. An important gene associated with 14q11.2 Microduplication Syndrome is CHD8 (Chromodomain Helicase DNA Binding Protein 8), and among its related pathways/superpathways is Chromatin Regulation / Acetylation. Affiliated tissues include heart, and related phenotypes are delayed speech and language development and neurodevelopmental delay
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