Bilateral tonic-clonic seizure, Cutaneous photosensitivity, Depressed nasal bridge, Developmental regression, Downslanted palpebral fissures, Dysarthria, Dysphagia, EEG abnormality, EEG with abnormally slow frequencies, EEG with focal sharp slow waves, EEG with spike-wave complexes (>3.5 Hz), Encephalopathy, Enlarged cisterna magna, Epileptic encephalopathy, Falls, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Frontotemporal cerebral atrophy, Gastroesophageal reflux, Generalized myoclonic seizure, Generalized myoclonic-atonic seizure, Generalized non-motor (absence) seizure, Generalized tonic seizure, Gingival overgrowth, Global developmental delay, High forehead, Hyperactivity, Hypoplasia of the corpus callosum, Impulsivity, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Low-set ears, Macrocephaly, Mental deterioration, Myoclonus, Personality disorder, Photosensitive tonic-clonic seizure, Posteriorly rotated ears, Psychomotor retardation, Ptosis, Recurrent respiratory infections, Seizure, Status epilepticus, Tented upper lip vermilion

decreased body length, decreased body size, decreased bone mineral content, decreased erythrocyte cell number, decreased fetal size, decreased hemoglobin content, decreased survivor rate, decreased white adipose tissue amount, disheveled coat, enlarged heart atrium, enlarged lymph nodes, fetal growth retardation, heart inflammation, increased CD4-positive, alpha beta T cell number, increased T cell derived lymphoma incidence, increased cellular sensitivity to X-ray irradiation, increased cellular sensitivity to methylmethanesulfonate, increased cellular sensitivity to ultraviolet irradiation, increased grip strength, increased lymphoma incidence, increased spleen red pulp amount, lethality throughout fetal growth and development, incomplete penetrance, lipidosis, lymphoid hyperplasia, myocardial fiber degeneration, pale kidney, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, pulmonary alveolar edema, pulmonary alveolar hemorrhage, uterus cyst