Human (66 sources):
Abnormal facial shape,
Absent septum pellucidum,
Absent speech,
Aggressive behavior,
Amblyopia,
Ataxia,
Athetosis,
Autistic behavior,
Axial hypotonia,
Cardiomyopathy,
Cerebellar atrophy,
Cerebral atrophy,
Cerebral visual impairment,
Chorea,
Cortical dysplasia,
Delayed myelination,
Delayed speech and language development,
Depression,
Dyskinesia,
Dysmetria,
Dystonia,
EEG with focal epileptiform discharges,
EEG with generalized epileptiform discharges,
Epileptic spasm,
Exotropia,
Feeding difficulties,
Focal-onset seizure,
Generalized hypotonia,
Generalized-onset seizure,
Global developmental delay,
Hyperactivity,
Hyperreflexia,
Hypoglycemia,
Hypoplasia of the corpus callosum,
Hypotonia,
Hypsarrhythmia,
Impulsivity,
Increased circulating lactate concentration,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, moderate,
Intellectual disability, severe,
Intrauterine growth retardation,
Lactic acidosis,
Large basal ganglia,
Limb hypertonia,
Microcephaly,
Motor delay,
Motor stereotypy,
Multifocal epileptiform discharges,
Muscle weakness,
Nasogastric tube feeding,
Neurological speech impairment,
Nystagmus,
Optic atrophy,
Polymicrogyria,
Poor speech,
Rod-cone dystrophy,
Seizure,
Short attention span,
Skeletal muscle atrophy,
Sleep disturbance,
Spastic tetraplegia,
Spasticity,
Strabismus,
Ventriculomegaly
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