Disease

Chromosome 9q34.3 Deletion Syndrome

About the Disease
Kleefstra Syndrome, also known as 9q34.3 microdeletion syndrome, is related to kleefstra syndrome 2 and kleefstra syndrome 1, and has symptoms including seizures An important gene associated with Kleefstra Syndrome is EHMT1 (Euchromatic Histone Lysine Methyltransferase 1), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Chromatin organization. Affiliated tissues include tongue, heart and brain, and related phenotypes are coarse facial features and global developmental delay

Common Targets
KMT2C | EHMT1 | COL5A1

疾病靶点研报
Chromosome 9q34.3 Deletion Syndrome

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