Kleefstra Syndrome

Kleefstra Syndrome, also known as 9q subtelomeric deletion 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 Gene expression (Transcription) and RNA Polymerase I Promoter Opening. Affiliated tissues include tongue and heart, and related phenotypes are hypotonia and coarse facial features