Brain atrophy, Cerebral atrophy, Cerebral visual impairment, Choreoathetosis, Decreased fetal movement, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, Dystonia, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hyperkinetic movements, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Inability to walk, Intellectual disability, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Myoclonus, Nystagmus, Optic atrophy, Poor head control, Ptosis, Recurrent respiratory infections, Reduced tendon reflexes, Retinal degeneration, Rigidity, Secondary microcephaly, Seizure, Short stature, Spasticity, Status epilepticus, Strabismus, Tremor, Unsteady gait, obsolete Central hypotonia

abnormal learning/memory/conditioning, abnormal lipid level, abnormal locomotor activation, abnormal locomotor behavior, abnormal long term spatial reference memory, abnormal miniature excitatory postsynaptic currents, abnormal miniature inhibitory postsynaptic currents, abnormal sensory capabilities/reflexes/nociception, abnormal single cell response, abnormal sleep pattern, abnormal spatial learning, abnormal summary potential, abnormal sympathetic nervous system physiology, alcohol aversion, behavior/neurological phenotype, decreased alcohol consumption, decreased anxiety-related response, decreased chemically-elicited antinociception, decreased grip strength, decreased startle reflex, decreased susceptibility to diet-induced obesity, decreased thigmotaxis, endocrine/exocrine gland phenotype, enhanced behavioral response to alcohol, fragmentation of sleep/wake states, growth/size/body region phenotype, homeostasis/metabolism phenotype, hyporesponsive to tactile stimuli, impaired behavioral response to alcohol, impaired conditioned place preference behavior, impaired social transmission of food preference, improved glucose tolerance, increased aggression towards mice, increased chemical nociceptive threshold, increased thermal nociceptive threshold, nervous system phenotype, postnatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reduced long term potentiation