Cerebellar atrophy, Cerebral atrophy, Cognitive impairment, Color vision defect, Corpus callosum atrophy, Decreased fetal movement, Deeply set eye, Dementia, Diabetes mellitus, Duane anomaly, Dysphagia, Encephalopathy, Epileptic encephalopathy, Failure to thrive, Fatigue, Feeding difficulties, Gait disturbance, Generalized hypotonia, Global developmental delay, Hallucinations, Hemiparesis, Horizontal nystagmus, Hypogonadism, Hypothyroidism, Hypotonia, Lactic acidosis, Macrocytic anemia, Microcephaly, Migraine, Moderately reduced visual acuity, Morning glory anomaly, Myalgia, Myopathy, Nystagmus, Oculomotor apraxia, Ophthalmoplegia, Optic atrophy, Pallor, Pes cavus, Pointed chin, Progressive external ophthalmoplegia, Proximal muscle weakness, Ptosis, Red-green dyschromatopsia, Reduced visual acuity, Scapular winging, Seizure, Sensorimotor neuropathy, Sensorineural hearing impairment, Skeletal muscle atrophy, Slow decrease in visual acuity, Spastic paraplegia, Spasticity, Status epilepticus, Strabismus, Temporal optic disc pallor, Tritanomaly, Visual impairment, Weakness of facial musculature

abnormal heart ventricle pressure, abnormal heart weight, abnormal mitochondrial ATP synthesis coupled electron transport, abnormal myocardial fiber physiology, abnormal neurite morphology, abnormal peroxisome morphology, abnormal pilomotor reflex, abnormal posterior cranial fossa morphology, abnormal synapse morphology, abnormal vitreous body morphology, absent fibroblast proliferation, absent gastric milk in neonates, absent trophoblast giant cells, behavior/neurological phenotype, cardiac interstitial fibrosis, caudal body truncation, cellular phenotype, decreased CNS synapse formation, decreased Purkinje cell number, decreased apoptosis, decreased embryo size, decreased embryonic neuroepithelium thickness, decreased fibroblast proliferation, decreased heart weight, decreased left ventricle systolic pressure, decreased mean systemic arterial blood pressure, decreased ventricle muscle contractility, delayed hepatic development, dilated heart, dystrophic cardiac calcinosis, embryonic growth retardation, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, enhanced sensorimotor gating, enlarged myocardial fiber, forebrain hypoplasia, increased body size, increased brain apoptosis, increased circulating alanine transaminase level, increased circulating aspartate transaminase level, increased left ventricle diastolic pressure, increased mitochondrial size, increased neuron apoptosis, increased prepulse inhibition, liver vascular congestion, persistence of hyaloid vascular system, postnatal lethality, complete penetrance, prenatal lethality, complete penetrance, preweaning lethality, complete penetrance, pulmonary vascular congestion, reduced cerebellar foliation, skin edema, small cerebellum, thin myocardium, visceral vascular congestion