Autism, Autistic behavior, Behavioral abnormality, Brain atrophy, Cerebral atrophy, Decreased fetal movement, Delayed myelination, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Dyskinesia, EEG abnormality, EEG with multifocal slow activity, Encephalopathy, Epileptic encephalopathy, Facial asymmetry, Failure to thrive, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, Global developmental delay, High forehead, Hyperreflexia, Hypodontia, Hyporeflexia, Hypsarrhythmia, Impulsivity, Inability to walk, Infantile spasms, Intellectual disability, Intellectual disability, severe, Involuntary movements, Limb hypertonia, Mental deterioration, Microcephaly, Motor stereotypy, Myoclonus, Nystagmus, Obesity, Optic atrophy, Polyphagia, Poor eye contact, Poor head control, Ptosis, Reduced tendon reflexes, Retinal degeneration, Rigidity, Secondary microcephaly, Seizure, Severe global developmental delay, Short stature, Spastic diplegia, Spasticity, Status epilepticus, Tremor, Unsteady gait, Visual impairment

abnormal cerebellum development, abnormal cerebral cortex morphology, abnormal circadian behavior, abnormal cochlear OHC afferent innervation pattern, abnormal cochlear ganglion morphology, abnormal contextual conditioning behavior, abnormal cortical plate morphology, abnormal crista ampullaris neuroepithelium morphology, abnormal dendrite morphology, abnormal distortion product otoacoustic emission, abnormal dopaminergic neuron morphology, abnormal excitatory postsynaptic potential, abnormal innervation, abnormal learning/memory/conditioning, abnormal lipid level, abnormal long term potentiation, abnormal myelin sheath morphology, abnormal neuron differentiation, abnormal peripheral nervous system regeneration, abnormal pupillary reflex, abnormal response to novel object, abnormal retina development, abnormal retina ganglion cell morphology, abnormal retina rod cell outer segment morphology, abnormal rod electrophysiology, abnormal sensory neuron innervation pattern, abnormal somatic sensory system morphology, abnormal somatosensory cortex morphology, abnormal spatial learning, abnormal spatial working memory, abnormal survival, abnormal synapse morphology, abnormal type I vestibular cell, abnormal utricular macula morphology, abnormal vestibular ganglion morphology, abnormal vestibular labyrinth morphology, abnormal vestibular nerve morphology, abnormal vibrissae reflex, abnormal visual cortex morphology, absent hair-down neurons, absent suckling reflex, adipose tissue phenotype, adrenal cortical hyperplasia, behavior/neurological phenotype, decreased amacrine cell number, decreased birth body size, decreased body length, decreased body size, decreased dopaminergic neuron number, decreased granulosa cell proliferation, decreased kindling response, decreased long bone epiphyseal plate size, decreased motor neuron number, decreased neuron number, decreased prepulse inhibition, decreased retina ganglion cell number, decreased sensory neuron number, decreased tertiary ovarian follicle number, decreased width of hypertrophic chondrocyte zone, endocrine/exocrine gland phenotype, enhanced behavioral response to cocaine, growth/size/body region phenotype, homeostasis/metabolism phenotype, impaired granulosa cell differentiation, impaired ovarian folliculogenesis, impaired righting response, impaired synaptic plasticity, increased abdominal fat pad weight, increased gonadal fat pad weight, increased liver weight, increased susceptibility to age related obesity, increased susceptibility to dopaminergic neuron neurotoxicity, increased susceptibility to weight gain, increased thigmotaxis, increased total body fat amount, induced hyperactivity, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, no abnormal phenotype detected, no swallowing reflex, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance, reduced long term potentiation, small L4 dorsal root ganglion, small cochlear ganglion, small dorsal root ganglion, small facial motor nucleus, small geniculate ganglion, small nodose ganglion, small petrosal ganglion, small trigeminal ganglion, small vestibular ganglion