Babinski sign, Bilateral tonic-clonic seizure, Blurred vision, Broad finger, Broad phalanx of the toes, Calf muscle hypertrophy, Cerebellar atrophy, Chorea, Choreoathetosis, Cleft palate, Clumsiness, Congenital diaphragmatic hernia, Craniofacial disproportion, Delayed myelination, Delayed speech and language development, Depressed nasal bridge, Developmental regression, Diffuse cerebral atrophy, Diffuse white matter abnormalities, Diplopia, Dysarthria, Dyskinesia, Dystonia, EEG abnormality, EEG with burst suppression, EEG with spike-wave complexes, EMG abnormality, Elevated circulating creatine kinase concentration, Episodic ataxia, Failure to thrive, Febrile seizure (within the age range of 3 months to 6 years), Focal sensory seizure, Generalized clonic seizure, Generalized non-motor (absence) seizure, Generalized tonic seizure, Global developmental delay, Hand clenching, Headache, Hyperactivity, Hyperhidrosis, Hyperreflexia, Hypoplasia of the corpus callosum, Hypsarrhythmia, Incoordination, Infantile muscular hypotonia, Infantile spasms, Intellectual disability, Involuntary movements, Kyphoscoliosis, Microcephaly, Micropenis, Migraine, Motor delay, Muscle spasm, Muscle stiffness, Myoclonus, Myokymia, Myotonia, Nausea, Orofacial dyskinesia, Pachygyria, Paroxysmal choreoathetosis, Paroxysmal dystonia, Poor coordination, Poor head control, Postural instability, Precocious puberty, Renal dysplasia, Respiratory distress, Scoliosis, Seizure, Self-injurious behavior, Short finger, Sleep disturbance, Sloping forehead, Slurred speech, Spastic gait, Spasticity, Specific learning disability, Strabismus, Tip-toe gait, Tremor, Type 1 muscle fiber predominance, Umbilical hernia, Uni- and bilateral multifocal epileptiform discharges, Ureterocele, Ventricular septal defect, Vertigo, Writer's cramp, obsolete Focal seizures, afebril

abnormal locomotor behavior, abnormal mitochondrial ATP synthesis coupled electron transport, abnormal paired-pulse facilitation, abnormal sexual interaction, behavior/neurological phenotype, chromodacryorrhea, convulsive seizures, decreased body size, decreased chemical nociceptive threshold, decreased chemically-elicited antinociception, decreased nerve fiber response threshold, decreased thermal nociceptive threshold, ear inflammation, embryonic lethality, complete penetrance, excessive tearing, eye inflammation, impaired balance, impaired swimming, increased blinking frequency, increased brain size, increased brain weight, increased startle reflex, increased susceptibility to pharmacologically induced seizures, oxidative stress, porphyria, postnatal lethality, incomplete penetrance, premature death