Chorea, Choreoathetosis, Cognitive impairment, Deeply set eye, Dysarthria, Dysesthesia, Dyskinesia, Dysphagia, Dysphasia, Dyspnea, Dystonia, EEG abnormality, Facial grimacing, Fatigue, Focal sensory seizure, Focal-onset seizure, Generalized muscle weakness, Generalized non-motor (absence) seizure, Generalized-onset seizure, Global developmental delay, Hallucinations, Hemiplegia/hemiparesis, Hyperactive deep tendon reflexes, Hyperkinetic movements, Hypoglycorrhachia, Hypotonia, Intellectual disability, Intellectual disability, mild, Involuntary movements, Irritability, Joint stiffness, Lower limb spasticity, Memory impairment, Migraine, Motor stereotypy, Myoclonus, Myokymia, Nausea and vomiting, Neurological speech impairment, Normal interictal EEG, Nystagmus, Orofacial dyskinesia, Paresthesia, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Paroxysmal dystonia, Pigmentary retinopathy, Reduced consciousness/confusion, Reticulocytosis, Rigidity, Seizure, Sensorineural hearing impairment, Spasticity, Specific learning disability, Staring gaze, Torsion dystonia, Torticollis, Tremor, Trismus, Writer's cramp, obsolete Focal seizures, afebril

abnormal synaptic plasticity, audiogenic seizures, behavior/neurological phenotype, decreased circulating alkaline phosphatase level, decreased excitatory postsynaptic current amplitude, decreased startle reflex, impaired balance, impaired righting response, increased grooming behavior, increased susceptibility to pharmacologically induced seizures, induced hyperactivity, jumpy, nervous system phenotype, retropulsion, thin cerebral cortex