Kabuki Syndrome 1 (KABUK1)

Kabuki Syndrome 1, also known as kabuki syndrome, is related to charge syndrome and familial isolated trichomegaly. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. The drugs Dopamine and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are macrotia and abnormal form of the vertebral bodies