Anteverted nares, Atonic seizure, Attention deficit hyperactivity disorder, Autistic behavior, Babinski sign, Bilateral tonic-clonic seizure, Broad alveolar ridges, Broad finger, Broad nasal tip, Broad phalanx of the toes, Cerebellar atrophy, Cerebral cortical atrophy, Choreoathetosis, Cleft palate, Clinodactyly of the 2nd toe, Coarse facial features, Cryptorchidism, Decreased testicular size, Delayed eruption of teeth, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Diarrhea, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Downslanted palpebral fissures, Drooling, Duane anomaly, Dysarthria, Dyskinesia, Dysphagia, Dyspnea, Dystonia, EEG abnormality, EEG with burst suppression, EEG with spike-wave complexes, Epileptic encephalopathy, Episodic ataxia, Exocrine pancreatic insufficiency, Facial palsy, Facial telangiectasia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties in infancy, Flexion contracture, Focal dystonia, Focal seizures, afebril, Gait disturbance, Generalized clonic seizure, Generalized hirsutism, Generalized hypotonia, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Generalized tonic seizure, Gliosis, Global developmental delay, Hemiplegia, High forehead, High palate, Hirsutism, Hyperactivity, Hyperconvex nail, Hyperreflexia, Hypohidrosis, Hypoplasia of penis, Hypoplasia of the corpus callosum, Hypospadias, Hypsarrhythmia, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intellectual disability, profound, Intellectual disability, progressive, Intellectual disability, severe, Limb dystonia, Limb joint contracture, Lissencephaly, Long palpebral fissure, Long philtrum, Long upper lip, Low anterior hairline, Low-set ears, Lower limb spasticity, Macrocephaly, Macroorchidism, Malabsorption, Meckel diverticulum, Microcephaly, Micrognathia, Micropenis, Midface retrusion, Mild neurosensory hearing impairment, Moderate sensorineural hearing impairment, Muscle stiffness, Muscular hypotonia, Muscular hypotonia of the trunk, Myoclonus, Neonatal hypotonia, Nystagmus, Obesity, Optic atrophy, Overlapping toe, Pachygyria, Patent ductus arteriosus, Periorbital fullness, Pes planus, Poor head control, Poor speech, Precocious puberty, Profound global developmental delay, Prominent forehead, Prominent nasal bridge, Prominent supraorbital ridges, Protruding ear, Pyloric stenosis, Renal dysplasia, Renal hypoplasia/aplasia, Rigidity, Scoliosis, Seizure, Self-injurious behavior, Severe global developmental delay, Short finger, Short stature, Shortening of all distal phalanges of the fingers, Sleep disturbance, Sloping forehead, Small for gestational age, Spastic tetraplegia, Spasticity, Specific learning disability, Status epilepticus, Strabismus, Synophrys, Tapered finger, Tetraplegia, Thick lower lip vermilion, Thin upper lip vermilion, Tremor, Triangular face, Umbilical hernia, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Urinary incontinence, Ventricular septal defect, Ventriculomegaly, Visual impairment, Wide anterior fontanel, Wide nasal bridge, Widened subarachnoid space

abnormal dentate gyrus morphology, abnormal fetal Leydig cell differentiation, abnormal forebrain development, abnormal glutaminergic neuron morphology, abnormal hippocampus CA3 region morphology, abnormal hippocampus CA4 region morphology, abnormal hippocampus development, abnormal motor capabilities/coordination/movement, abnormal neocortex morphology, abnormal nervous system tract morphology, abnormal pancreatic delta cell morphology, abnormal postnatal subventricular zone morphology, abnormal response to social novelty, abnormal social investigation, abnormal somatosensory cortex morphology, abnormal spatial learning, abnormal spike wave discharge, abnormal telencephalon development, abnormal telencephalon morphology, abnormal ventral striatum morphology, abnormal voluntary movement, absent hippocampal commissure, absent hippocampal fimbria, absent pancreatic alpha cells, clonic seizures, convulsive seizures, decreased aggression towards mice, decreased anxiety-related response, decreased brain size, decreased exploration in new environment, decreased fear-related response, decreased neuron number, decreased survivor rate, decreased thermal nociceptive threshold, endocrine/exocrine gland phenotype, enhanced coordination, enlarged seminiferous tubules, enlarged third ventricle, hypoactivity, impaired balance, impaired contextual conditioning behavior, impaired cued conditioning behavior, impaired passive avoidance behavior, impaired spatial learning, increased anxiety-related response, increased exploration in new environment, increased pancreatic beta cell number, increased pancreatic delta cell number, increased sensitivity to induced morbidity/mortality, increased susceptibility to pharmacologically induced seizures, increased vertical activity, loss of GABAergic neurons, neonatal lethality, complete penetrance, nervous system phenotype, no abnormal phenotype detected, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, seminal vesicle hypoplasia, small olfactory bulb, social withdrawal, sporadic seizures, thin cortical plate, tonic seizures, weakness