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

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Thrombocytopenia | Sarcoma | X-linked Myotubular Myopathy | Glomerulonephritis | Craniofrontonasal Syndrome | Scleroderma | Osteomyelitis | Mumps | Peritonitis | Hypoglycemia | Bone Marrow Necrosis | Dystrophy, Cone-rod | Intracerebral Hemorrhage | Cerebrotendinous Xanthomatosis | LMNA-related Congenital Muscular Dystrophy | Left Ventricular Noncompaction | Angioedema | Osteopathia Striata With Cranial Sclerosis | Autoimmune Polyendocrine Syndrome | Cluster Headache | Prolactinoma | Hemolytic Uremic Syndrome, Atypical | Hypophosphatemic Rickets With Hypercalciuria, Hereditary | Multiple Sclerosis, Primary Progressive | DRESS Syndrome | Chondromyxoid Fibroma | Pemphigus Foliaceus | Hyperuricemic Nephropathy, Familial Juvenile | Spinocerebellar Ataxia Type 1 | Epilepsy Of Infancy With Migrating Focal Seizures | Retinal Dystrophy | Poretti-Boltshauser Syndrome | Episodic Ataxia Type 2 | Keratosis, Seborrheic | Myeloid Leukemia | Schindler Disease | Mitochondrial DNA Depletion Syndrome, 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