Clinical Trials

Asthma, Cystic Fibrosis, Lung Diseases, Pulmonary Fibrosis, Tuberous Sclerosis, Sarcoidosis, Pulmonary, alpha 1-Antitrypsin Deficiency

Hypothalamic hamartomas, Focal Cortical Dysplasia, Encephalitis, Epilepsies, Partial, Tuberous Sclerosis, Hemimegalencephaly

Lung Diseases, Pneumothorax, Tuberous Sclerosis, Lymphangioleiomyomatosis

Neoplastic Syndromes, Hereditary, Tuberous Sclerosis

Epilepsies, Myoclonic, Seizures, Tuberous Sclerosis, Lennox Gastaut Syndrome

Tuberous Sclerosis

Turcot syndrome, Juvenile polyposis syndrome, Choroid Plexus Carcinoma, GATA2 Deficiency, Basal Cell Nevus Syndrome, Colorectal Neoplasms, Hereditary Nonpolyposis, Fanconi Anemia, Hamartoma Syndrome, Multiple, von Hippel-Lindau Disease, Hodgkin Disease, Lymphoma, Non-Hodgkin, Melanoma, Neuroblastoma, Neurofibromatosis 1, Noonan Syndrome, Pancreatic Neoplasms, Paraganglioma, Peutz-Jeghers Syndrome, Pheochromocytoma, Rothmund-Thomson Syndrome, Adenomatous Polyposis Coli, Retinoblastoma, Rhabdomyosarcoma, Tuberous Sclerosis, Neurofibromatosis 2, Li-Fraumeni Syndrome, Adrenocortical Carcinoma, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Dyskeratosis Congenita, Genetic Predisposition to Disease, Anemia, Diamond-Blackfan, Carney Complex, Hereditary Breast and Ovarian Cancer Syndrome

Carcinoma, Renal Cell, Carcinoma, Hepatocellular, Tuberous Sclerosis, Neuroendocrine Tumors

Creatine deficiency, X-linked, Telomeric 22q13 Monosomy Syndrome, Chromosome 15q, partial deletion, Fragile X Syndrome, Hamartoma Syndrome, Multiple, Tuberous Sclerosis, Rett Syndrome, Angelman Syndrome

Tuberous Sclerosis, Lymphangioleiomyomatosis

Epilepsy, Tuberous Sclerosis

Drug Resistant Epilepsy, Epilepsy, Tuberous Sclerosis

Autism Spectrum Disorder, Anxiety Disorders, Attention Deficit Disorder with Hyperactivity, Autistic Disorder, DiGeorge Syndrome, Fragile X Syndrome, Tourette Syndrome, Tic Disorders, Tuberous Sclerosis, 22q11 Deletion Syndrome, Neurodevelopmental Disorders

Tuberous Sclerosis, Lymphangioleiomyomatosis

Albinism, Basal Cell Nevus Syndrome, Cutis Laxa, Ectodermal Dysplasia, Epidermolysis Bullosa, Ichthyosis, Keratoderma, Palmoplantar, Tuberous Sclerosis, Birt-Hogg-Dube Syndrome

Kidney Diseases, Tuberous Sclerosis

Carney-Stratakis Syndrome, Carney Triad, Pituitary Adenoma, Familial Isolated, Colorectal Neoplasms, Hereditary Nonpolyposis, Hamartoma Syndrome, Multiple, von Hippel-Lindau Disease, Adenoma, Islet Cell, Neurofibromatosis 1, Paraganglioma, Pheochromocytoma, Pituitary Neoplasms, Tuberous Sclerosis, Li-Fraumeni Syndrome, Carcinoma, Medullary, Neuroendocrine Tumors, Multiple Endocrine Neoplasia Type 1, Multiple Endocrine Neoplasia Type 2a, Gastrointestinal Stromal Tumors, Hyperparathyroidism, Primary, Carney Complex

Renal cysts and diabetes syndrome, Hypomagnesemia primary, Nephronophthisis, familial juvenile, Renal tubular acidosis, distal, autosomal recessive, Adenine phosphoribosyltransferase deficiency, SeSAME syndrome, Hematuria, Benign Familial, Hypophosphatemic Rickets with Hypercalciuria, Hereditary, Nephrogenic Syndrome of Inappropriate Antidiuresis, Hypomagnesemia 1, Intestinal, Immunoglobulin Light-chain Amyloidosis, Fabry Disease, Bartter Syndrome, Calciphylaxis, Cystinosis, Cystinuria, Fibromuscular Dysplasia, Glomerulonephritis, IGA, Glomerulosclerosis, Focal Segmental, Glycosuria, Renal, Hyperoxaluria, Primary, Nail-Patella Syndrome, Nephritis, Hereditary, Nephrosis, Lipoid, Nephrotic Syndrome, Oculocerebrorenal Syndrome, Pseudohypoaldosteronism, Red-Cell Aplasia, Pure, Retroperitoneal Fibrosis, Tuberous Sclerosis, Vasculitis, Glomerulonephritis, Membranoproliferative, Glomerulonephritis, Membranous, Polycystic Kidney, Autosomal Dominant, Polycystic Kidney, Autosomal Recessive, Diabetes Insipidus, Nephrogenic, Denys-Drash Syndrome, Gitelman Syndrome, Liddle Syndrome, Dent Disease, Atypical Hemolytic Uremic Syndrome

Blepharophimosis syndrome Ohdo type, Tetrasomy X, Allan-Herndon-Dudley syndrome, Acrocephalosyndactylia, Adrenal Hyperplasia, Congenital, De Lange Syndrome, DiGeorge Syndrome, Klinefelter Syndrome, Noonan Syndrome, Prader-Willi Syndrome, Disorders of Sex Development, Tuberous Sclerosis, Turner Syndrome, Rett Syndrome, Neurofibromatoses, Kallmann Syndrome, Williams Syndrome, Bardet-Biedl Syndrome, Jacobsen Distal 11q Deletion Syndrome, 22q11 Deletion Syndrome, Disorder of Sex Development, 46,XY, CHARGE Syndrome

Drug Resistant Epilepsy, Epilepsy, Tuberous Sclerosis