Amelogenesis imperfecta, Ataxia, Attention deficit hyperactivity disorder, Autism, Axial hypotonia, Behavioral abnormality, Brain atrophy, Cerebellar hypoplasia, Cerebral atrophy, Cerebral cortical atrophy, Decreased fetal movement, Delayed eruption of teeth, Delayed myelination, Delayed speech and language development, Dementia, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG abnormality, EEG with multifocal slow activity, Enamel hypoplasia, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, Hepatomegaly, High forehead, Hydrocephalus, Hypodontia, Hypohidrosis, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Intellectual disability, severe, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Multifocal seizures, Myoclonus, Neurological speech impairment, Nystagmus, Optic atrophy, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Strabismus, Tremor, Unsteady gait, Ventriculomegaly, Yellow-brown discoloration of the teeth

decreased susceptibility to diet-induced obesity, improved glucose tolerance, increased carbon dioxide production, increased energy expenditure, increased grip strength, increased insulin sensitivity, increased lean body mass, increased muscle cell glucose uptake, increased oxygen consumption