Agitation, Anxiety, Apathy, Ataxia, Athetosis, Attention deficit hyperactivity disorder, Auditory hallucinations, Autism, Babinski sign, Behavioral abnormality, Blepharospasm, Bradyopsia, Brain atrophy, Cerebellar atrophy, Cerebellar vermis atrophy, Cerebral atrophy, Choking episodes, Coma, Confusion, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Diplopia, Downbeat nystagmus, Downslanted palpebral fissures, Drowsiness, Dysarthria, Dyscalculia, Dyskinesia, Dysphagia, Dysphasia, Dystonia, EEG abnormality, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Episodic ataxia, Esotropia, Failure to thrive, Feeding difficulties, Fever, Flexion contracture, Gait ataxia, Gastroesophageal reflux, Gaze-evoked horizontal nystagmus, Gaze-evoked nystagmus, Generalized hypotonia, Global developmental delay, Hemiparesis, Hemiplegia, Hemiplegia/hemiparesis, High forehead, Hyperreflexia, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impaired smooth pursuit, Impulsivity, Incoordination, Intellectual disability, Intention tremor, Involuntary movements, Irritability, Limb hypertonia, Mental deterioration, Microcephaly, Migraine, Migraine with aura, Muscle weakness, Myoclonus, Myotonia, Nausea and vomiting, Neurological speech impairment, Nystagmus, Optic atrophy, Pallor, Paresthesia, Pigmentary retinopathy, Poor head control, Postural instability, Progressive cerebellar ataxia, Proteinuria, Psychosis, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Saccadic smooth pursuit, Seizure, Sensorineural hearing impairment, Sensory neuropathy, Short stature, Spasticity, Status epilepticus, Strabismus, Tinnitus, Torticollis, Transient unilateral blurring of vision, Tremor, Unsteady gait, Vertical nystagmus, Vertigo, Vestibular dysfunction, Visual hallucinations, Vomiting

abnormal cerebellar molecular layer, abnormal cerebellum external granule cell layer morphology, abnormal channel response, abnormal excitatory postsynaptic current amplitude, abnormal excitatory postsynaptic currents, abnormal excitatory postsynaptic potential, abnormal inhibitory postsynaptic currents, abnormal locomotor behavior, abnormal locomotor coordination, abnormal maternal nurturing, abnormal miniature endplate potential, abnormal miniature excitatory postsynaptic currents, abnormal motor capabilities/coordination/movement, abnormal muscle electrophysiology, abnormal nerve fiber response, abnormal nursing, abnormal paired-pulse inhibition, abnormal physiological response to xenobiotic, abnormal postnatal growth/weight/body size, abnormal response/metabolism to endogenous compounds, abnormal seizure response to inducing agent, abnormal somatosensory cortex physiology, abnormal spike wave discharge, abnormal spleen red pulp morphology, abnormal survival, abnormal synapse morphology, abnormal synaptic acetylcholine release, behavior/neurological phenotype, circling, clonic seizures, decreased body size, decreased bone marrow cell number, decreased choline O-acetyltransferase activity, decreased excitatory postsynaptic current amplitude, decreased glutamic acid level, decreased grip strength, decreased litter size, decreased locomotor activity, decreased nerve fiber response intensity, decreased neurotransmitter release, decreased survivor rate, decreased thermal nociceptive threshold, decreased vertical activity, disheveled coat, enhanced behavioral response to xenobiotic, enhanced paired-pulse facilitation, environmentally induced seizures, growth/size/body region phenotype, hemiplegia, hyporesponsive to tactile stimuli, impaired balance, impaired limb coordination, impaired righting response, impaired swimming, increased apoptosis, increased brain tyrosine 3-monooxygenase activity, increased cerebellar granule cell number, increased cerebral infarct size, increased excitatory postsynaptic current amplitude, increased glycine level, increased neurotransmitter release, increased noradrenaline level, increased sensitivity to induced morbidity/mortality, increased sensitivity to xenobiotic induced morbidity/mortality, increased susceptibility to ischemic brain injury, increased susceptibility to pharmacologically induced seizures, increased taurine level, lethality at weaning, complete penetrance, limb grasping, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, perinatal lethality, incomplete penetrance, postnatal lethality, complete penetrance, premature death, preweaning lethality, complete penetrance, preweaning lethality, incomplete penetrance, reduced female fertility, reduced fertility, reduced male fertility, short stride length, small cerebellum, sporadic seizures, thin cerebellar granule layer, thin cerebellar molecular layer, thymus atrophy, vision/eye phenotype, weakness