Affected Systems |
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behavior/neurological
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√
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√
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decreased grip strength
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√
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weakness
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√
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seizures
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√
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cardiovascular system
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√
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√
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abnormal blood vessel morphology
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√
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abnormal retina vasculature morphology
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√
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abnormal retina blood vessel pattern
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√
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intracerebral hemorrhage
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√
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subarachnoid hemorrhage
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√
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cellular
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√
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abnormal basement membrane morphology
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√
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embryo
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√
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abnormal parietal endoderm morphology
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√
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abnormal Reichert's membrane morphology
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√
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growth/size/body
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√
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decreased body size
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√
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homeostasis/metabolism
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√
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√
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increased circulating creatine kinase level
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√
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cyanosis
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√
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increased urine microalbumin level
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√
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mortality/aging
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√
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√
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premature death
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√
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perinatal lethality, incomplete penetrance
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√
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embryonic lethality, complete penetrance
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√
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muscle
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√
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√
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myopathy
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√
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√
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nervous system
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√
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√
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seizures
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√
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intracerebral hemorrhage
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√
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subarachnoid hemorrhage
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√
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enlarged brain ventricles
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√
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abnormal hippocampus morphology
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√
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abnormal cerebral cortex morphology
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√
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delaminated cerebral cortex
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√
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brain lesion
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√
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astrocytosis
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√
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abnormal brain pia mater morphology
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√
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abnormal retina ganglion cell morphology
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√
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optic nerve hypoplasia
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√
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renal/urinary system
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√
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increased urine microalbumin level
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√
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abnormal kidney morphology
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√
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reproductive system
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√
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reduced fertility
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√
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respiratory system
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√
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respiratory distress
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√
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vision/eye
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√
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√
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abnormal eye morphology
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√
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optic nerve hypoplasia
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√
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microphthalmia
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√
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abnormal retina morphology
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√
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abnormal retina vasculature morphology
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√
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abnormal retina blood vessel pattern
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√
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abnormal retina inner limiting membrane morphology
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√
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abnormal retina neuronal layer morphology
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√
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abnormal retina ganglion cell morphology
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√
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