Adenoma sebaceum, Angiofibromas, Aplasia/Hypoplasia of the corpus callosum, Arrhythmia, Ascites, Astrocytoma, Astrocytosis, Atelectasis, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Cafe-au-lait spot, Cardiac rhabdomyoma, Cerebral calcification, Chest pain, Chordoma, Chylopericardium, Chylothorax, Cognitive impairment, Confetti-like hypopigmented macules, Congestive heart failure, Cortical dysplasia, Cortical tubers, Cough, Dental enamel pits, Dyspnea, EEG abnormality, Emphysema, Ependymoma, Epileptic spasm, Fatigue, Fever, Focal cortical dysplasia type II, Focal impaired awareness seizure, Focal white matter lesions, Gastrointestinal hemorrhage, Gingival fibromatosis, Gingivitis, Global developmental delay, Hematuria, Hemimegalencephaly, Hemiparesis, Hemoptysis, Hydrocephalus, Hypomelanotic macule, Hypopigmented skin patches, Hypothyroidism, Increased intracranial pressure, Infantile spasms, Intellectual disability, Iris coloboma, Lymphadenopathy, Lymphedema, Macrodactyly, Macule, Multiple cafe-au-lait spots, Multiple renal cysts, Neoplasm of the pancreas, Nevus flammeus, Optic atrophy, Optic nerve glioma, Papule, Pneumothorax, Precocious puberty, Premature chromatid separation, Prominent occiput, Pulmonary infiltrates, Pulmonary lymphangiomyomatosis, Recurrent respiratory infections, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Renal insufficiency, Renal neoplasm, Respiratory insufficiency, Restrictive ventilatory defect, Retinal hamartoma, Seizure, Shagreen patch, Skin tags, Specific learning disability, Subcutaneous nodule, Subependymal giant-cell astrocytoma, Subependymal nodules, Subungual fibromas, Ungual fibroma, Vascular dilatation, Wolff-Parkinson-White syndrome

abnormal ciliary epithelium morphology, abnormal contextual conditioning behavior, abnormal cued conditioning behavior, abnormal dendrite morphology, abnormal dentate gyrus morphology, abnormal eye development, abnormal fetal cardiomyocyte morphology, abnormal hepatocyte morphology, abnormal hepatocyte physiology, abnormal hippocampus pyramidal cell layer, abnormal hippocampus pyramidal cell morphology, abnormal hippocampus region morphology, abnormal involuntary movement, abnormal iris pigment epithelium, abnormal learning/memory/conditioning, abnormal limb posture, abnormal myocardial fiber morphology, abnormal neocortex morphology, abnormal neuron differentiation, abnormal optic cup morphology, abnormal ovarian follicle morphology, abnormal response to novel odor, abnormal retina vasculature morphology, abnormal seminiferous tubule epithelium morphology, abnormal seminiferous tubule morphology, abnormal sexual interaction, abnormal single cell response, abnormal social investigation, abnormal spatial learning, abnormal spine curvature, abnormal tumor morphology, behavior/neurological phenotype, decreased Purkinje cell number, decreased anxiety-related response, decreased cardiac muscle contractility, decreased circulating ketone body level, decreased embryo size, decreased locomotor activity, decreased male germ cell number, decreased testis weight, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, enlarged myocardial fiber, excessive vocalization, hunched posture, hyporesponsive to tactile stimuli, impaired swimming, increased angiogenesis, increased brain size, increased brain weight, increased embryonic tissue cell apoptosis, increased extremity angiosarcoma incidence, increased grooming behavior, increased hemangioma incidence, increased hepatic hemangioma incidence, increased incidence of tumors by chemical induction, increased liver tumor incidence, increased metastatic potential, increased neuron apoptosis, increased renal carcinoma incidence, increased renal cystadenoma incidence, increased startle reflex, increased tumor incidence, increased uterus leiomyoma incidence, increased vertical activity, kidney epithelium hyperplasia, limb grasping, liver hypoplasia, liver/biliary system phenotype, nervous system phenotype, neuron hypertrophy, open neural tube, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, premature ovarian failure, pulmonary vascular congestion, reduced female fertility, reduced long term potentiation, short stride length, slow postnatal weight gain, sporadic seizures, straub tail