| CPS1 |
237300 |
Musculoskeletal-diseases |
|
musculoskeletal |
#11301219 |
| CPS1 |
237300 |
Craniofacial-abnormalities |
|
musculoskeletal |
#11301219 |
| CPS1 |
237300 |
Microcephaly |
|
musculoskeletal |
11301219 |
| CPS1 |
237300 |
Digestive-system-diseases |
|
gastrointestinal |
#6465866 #9686343 #9711878 #11301219 #12955727 #15617192 |
| CPS1 |
237300 |
Liver-diseases |
|
gastrointestinal |
#6465866 #9711878 |
| CPS1 |
237300 |
Fatty-liver |
steatosis; microvesicular; hepatocellular and kupffer cell glycogenosis; multiple intracellular vacuoles probably containing fat
|
gastrointestinal |
6465866 9711878 |
| CPS1 |
237300 |
Feeding-difficulties |
anorectic; poor weight gain; anorexia
|
gastrointestinal |
6465866 9686343 11301219 12955727 |
| CPS1 |
237300 |
Vomiting |
emesis; nausea; episodes
|
gastrointestinal |
6465866 9686343 9711878 11301219 12955727 15617192 |
| CPS1 |
237300 |
Respiratory-tract-diseases |
|
respiratory |
#9686343 #11301219 #11536261 |
| CPS1 |
237300 |
Respiration-disorders |
apnea; apneas; respiratory distress
|
respiratory |
#9686343 11301219 11536261 |
| CPS1 |
237300 |
Hyperventilation |
tachypnea; hyperpnea
|
respiratory |
9686343 |
| CPS1 |
237300 |
Nervous-system-diseases |
|
neurologic |
#6465866 #8273985 #8486760 #9309714 #9686343 #9711878 #11301219 #11474210 #11536261 #12655559 #12955727 #15617192 |
| CPS1 |
237300 |
Central-nervous-system-diseases |
|
neurologic |
#6465866 #8273985 #9686343 #9711878 #11301219 #11536261 #12655559 #12955727 #15617192 |
| CPS1 |
237300 |
Brain-diseases |
|
neurologic |
#6465866 #8273985 #9686343 #9711878 #11301219 #11536261 #12655559 #12955727 #15617192 |
| CPS1 |
237300 |
Brain-edema |
cerebral edema; edematous brain
|
neurologic |
8273985 9686343 11301219 15617192 |
| CPS1 |
237300 |
Encephalopathy |
hyperammonia related; neurotoxicity; hyperammonemic encephalopathy; encephalomalacia
|
neurologic |
11301219 12655559 15617192 |
| CPS1 |
237300 |
Seizures |
convulsions; tonic clonic seizures; generalized seizures; lip smacking; bicycling
|
neurologic |
6465866 8273985 9711878 11301219 11536261 12955727 |
| CPS1 |
237300 |
Cerebral-atrophy |
diffuse atrophy; caudate nuclei atrophic; basal ganglia atrophic
|
neurologic |
11301219 15617192 |
| CPS1 |
237300 |
Cerebral-necrosis |
necrotic fragmentation; Alzheimer type II astrocytes
|
neurologic |
11301219 |
| CPS1 |
237300 |
Electroencephalogram-abnormal |
slow dominant background rhythm
|
neurologic |
6465866 |
| CPS1 |
237300 |
Neurologic-manifestations |
|
neurologic |
#6465866 #8273985 #8486760 #9309714 #9686343 #9711878 #11301219 #11474210 #11536261 #12955727 #15617192 |
| CPS1 |
237300 |
Ataxia |
intermittend; gait ataxia
|
neurologic |
6465866 9686343 9711878 |
| CPS1 |
237300 |
Myoclonus |
sustained ankle clonus
|
neurologic |
11301219 |
| CPS1 |
237300 |
Neurobehavioral-manifestations |
|
neurologic |
#6465866 #8273985 #8486760 #9309714 #9686343 #9711878 #11301219 #11474210 #11536261 #12955727 #15617192 |
| CPS1 |
237300 |
Consciousness-disorders |
coma; disorientation; somnolence; somnolent
|
neurologic |
6465866 8273985 9686343 9711878 11301219 12955727 15617192 |
| CPS1 |
237300 |
Mental-retardation |
|
neurologic |
6465866 8486760 9309714 9711878 15617192 |
| CPS1 |
237300 |
Developmental-delay |
psychomotor retardation
|
neurologic |
6465866 8486760 9686343 11301219 |
| CPS1 |
237300 |
Irritability |
|
neurologic |
6465866 9686343 12955727 |
| CPS1 |
237300 |
Lethargy |
severe; grunting
|
neurologic |
6465866 8486760 9686343 9711878 11301219 11474210 11536261 |
| CPS1 |
237300 |
Neuromuscular-manifestations |
|
neurologic |
#11301219 #12955727 #15617192 |
| CPS1 |
237300 |
Muscle-hypertonia |
hypertonic; all extremities
|
neurologic |
11301219 |
| CPS1 |
237300 |
Muscle-hypotonia |
trunkal hypotonia; hypotonic
|
neurologic |
11301219 12955727 15617192 |
| CPS1 |
237300 |
Paralysis-Paresis |
hypotonic tetraparesis
|
neurologic |
15617192 |
| CPS1 |
237300 |
Stroke-like-episodes |
MRI findings; infarction within the territory of the middle cerebral artery; metabolic stroke; hemiparesis
|
neurologic |
9309714 |
| CPS1 |
237300 |
Cardiovascular-diseases |
|
cardiovascular |
#8486760 #11301219 #12655559 #12955727 |
| CPS1 |
237300 |
Heart-diseases |
|
cardiovascular |
#11301219 |
| CPS1 |
237300 |
Arrhythmia |
bradycardia; episodes
|
cardiovascular |
11301219 |
| CPS1 |
237300 |
Cardiorespiratory-arrest |
sudden infant death; neonatal death
|
cardiovascular |
8486760 11301219 12655559 12955727 |
| CPS1 |
237300 |
Vascular-diseases |
|
cardiovascular |
#11301219 |
| CPS1 |
237300 |
Hypotension |
|
cardiovascular |
11301219 |
| CPS1 |
237300 |
Metabolic-diseases |
|
metabolic |
#6465866 #8273985 #8486760 #9309714 #9711878 #11301219 #11474210 #11536261 #12655559 #12955727 #15617192 |
| CPS1 |
237300 |
Metabolic-brain-diseases |
MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; glutamine elevation; lactic acid accumulation within the region of infarction; glutamine elevation within the region of infarction
|
metabolic |
9309714 |
| CPS1 |
237300 |
Hyperammonemia |
ammonia levels elevated; severe; hyperammonemic; hyperammonemic crisis
|
metabolic |
6465866 8273985 8486760 9711878 11301219 11474210 11536261 12655559 12955727 15617192 |
| CPS1 |
237300 |
Hypouremia |
BUN test abnormal; BUN decreased; decreased urea levels; urea cycle defect
|
metabolic |
6465866 9309714 15617192 |
| CPS1 |
237300 |
Aminoacid-levels-abnormal |
plasma; decreased citrulline; decreased arginine; elevated glutamine; elevated glutamic acid; elevated alanine; elevated asparagine
|
metabolic |
6465866 8273985 9711878 11301219 11474210 11536261 12655559 12955727 15617192 |
| CPS1 |
237300 |
Endocrine-system-diseases |
|
endocrinologic |
#8273985 |
| CPS1 |
237300 |
Pituitary-diseases |
|
endocrinologic |
#8273985 |
| CPS1 |
237300 |
Diabetes-insipidus |
|
endocrinologic |
8273985 |
| CPS1 |
237300 |
Immune-system-diseases |
|
immunologic |
#11301219 |
| CPS1 |
237300 |
Infections |
respiratory tract infections
|
immunologic |
11301219 |
| CPS1 |
237300 |
Psychiatric-disorders |
|
psychiatric |
#8486760 #9711878 #11474210 #15617192 |
| CPS1 |
237300 |
Behavioral-symptoms |
|
psychiatric |
#8486760 #9711878 #11474210 |
| CPS1 |
237300 |
Feeding-behavior |
protein avoidance; protein intolerance
|
psychiatric |
8486760 9711878 11474210 |
| CPS1 |
237300 |
Mental-disorders |
|
psychiatric |
#15617192 |
| CPS1 |
237300 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#15617192 |
| CPS1 |
237300 |
Psychotic-disorders |
psychotic episodes; intermittend psychotic episodes; coinciding with menstrual period
|
psychiatric |
15617192 |
| CPS1 |
237300 |
Body-temperature-changes |
|
miscellaneous |
#11536261 #12955727 |
| CPS1 |
237300 |
Hypothermia |
|
miscellaneous |
11536261 12955727 |
| CPS1 |
237300 |
Growth-disorders |
|
miscellaneous |
#9686343 #11301219 #11474210 |
| CPS1 |
237300 |
Failure-to-thrive |
failed to thrive
|
miscellaneous |
11474210 |
| CPS1 |
237300 |
Growth-deficiency |
growth retardation; intrauterine
|
miscellaneous |
9686343 11301219 |
