| HADHA |
609015 |
Musculoskeletal-diseases |
|
musculoskeletal |
#2019931 #7748366 #8865274 #9739053 #10352164 #11855930 #14630990 #15902556 |
| HADHA |
609016 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9003853 |
| HADHA |
609015 |
Foot-deformities |
foot deformities; contractures; achilles tendon contractures
|
musculoskeletal |
2019931 9739053 |
| HADHA |
609015 |
Muscular-diseases |
limb girdle myopathy; lipid accumulative myopathy; denervation; re innervation
|
musculoskeletal |
2019931 7748366 #8865274 9739053 10352164 11855930 14630990 15902556 |
| HADHA |
609015 |
Rhabdomyolysis |
episodic
|
musculoskeletal |
15902556 |
| HADHA |
609015 |
Myoglobinuria |
episodes; recurrent; myoglobinuric episodes
|
musculoskeletal |
2019931 7748366 8865274 9739053 15902556 |
| HADHA |
609016 |
Craniofacial-abnormalities |
|
musculoskeletal |
#9003853 |
| HADHA |
609016 |
Microcephaly |
|
musculoskeletal |
9003853 |
| HADHA |
609015 |
Digestive-system-diseases |
|
gastrointestinal |
#7738175 #8865274 #9739053 #10400133 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Digestive-system-diseases |
|
gastrointestinal |
#7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #10518281 #11855930 #12162610 #12413376 #14605499 |
| HADHA |
609016 |
Biliary-tract-diseases |
|
gastrointestinal |
#9003853 #10352164 #10518281 #12162610 |
| HADHA |
609016 |
Cholestasis |
cholestatic manifestations
|
gastrointestinal |
9003853 10352164 10518281 12162610 |
| HADHA |
609016 |
Gastrointestinal-diseases |
|
gastrointestinal |
#9003853 |
| HADHA |
609016 |
Gastrointestinal-hemorrhage |
gastrointestinal bleeding
|
gastrointestinal |
9003853 |
| HADHA |
609015 |
Liver-diseases |
hepatic phenotype
|
gastrointestinal |
#8865274 #10400133 #11855930 #12971428 14630990 15902556 |
| HADHA |
609016 |
Liver-diseases |
liver failure; hepatopathy
|
gastrointestinal |
7846063 8094173 #8736409 8931405 #9003853 #9403664 10352164 #10518281 #11855930 #12162610 #12413376 #14605499 |
| HADHA |
609015 |
Fatty-liver |
steatosis; diffuse
|
gastrointestinal |
8865274 10400133 11855930 14630990 |
| HADHA |
609016 |
Fatty-liver |
steatosis; microvesicular; macrovesicular; pale yellow color; panlobular steatosis; hepatic fibrosis; fatty liver of pregnancy
|
gastrointestinal |
7846063 8094173 8736409 9403664 10352164 10518281 12162610 12413376 |
| HADHA |
609015 |
Liver-enzymes-abnormal |
AST elevated; ALT elevated
|
gastrointestinal |
8865274 10400133 11855930 12971428 |
| HADHA |
609016 |
Liver-enzymes-abnormal |
transaminases elevated; GGT elevated; AST elevated; ALT elevated
|
gastrointestinal |
8094173 8736409 8931405 9003853 9403664 10352164 10518281 11855930 12162610 12413376 |
| HADHA |
609015 |
Hepatomegaly |
enlarged liver
|
gastrointestinal |
8865274 11855930 |
| HADHA |
609016 |
Hepatomegaly |
|
gastrointestinal |
8736409 9003853 9403664 10352164 12162610 14605499 |
| HADHA |
609015 |
Feeding-difficulties |
food intake decreased
|
gastrointestinal |
8865274 10400133 11855930 |
| HADHA |
609016 |
Feeding-difficulties |
anorexia; feeding problems; poor feeding
|
gastrointestinal |
7846063 8094173 9403664 11855930 14605499 |
| HADHA |
609016 |
Diarrhea |
diarrhoea
|
gastrointestinal |
8094173 8736409 9003853 9403664 14605499 |
| HADHA |
609015 |
Vomiting |
episodic
|
gastrointestinal |
7738175 8865274 9739053 |
| HADHA |
609016 |
Vomiting |
hyperemesis; nausea
|
gastrointestinal |
8094173 8736409 8931405 9003853 14605499 |
| HADHA |
609015 |
Respiratory-tract-diseases |
|
respiratory |
#7738175 #8865274 #10400133 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Respiratory-tract-diseases |
|
respiratory |
#7846063 #9003853 #11855930 #14605499 |
| HADHA |
609015 |
Lung-diseases |
|
respiratory |
#12971428 |
| HADHA |
609016 |
Lung-diseases |
|
respiratory |
#7846063 #9003853 #11855930 #14605499 |
| HADHA |
609016 |
Pulmonary-fibrosis |
lung fibrosis; exudative phase; proliferative phase; fibrotic phase
|
respiratory |
14605499 |
| HADHA |
609016 |
Pneumonia |
|
respiratory |
9003853 |
| HADHA |
609015 |
Pulmonary-edema |
lung edema; granular density in both lungs
|
respiratory |
12971428 |
| HADHA |
609016 |
Pulmonary-edema |
lower lobe collapse; patchy ground glass changes; patchy consolidations; pulmonary fibrosis; interstitial fibrosis; bronchoalveolar infiltrates; pulmonary congestions; pulmonary oedema; pulmonary collapse; pneumothoraces
|
respiratory |
7846063 9003853 11855930 14605499 |
| HADHA |
609016 |
Pulmonary-hemorrhage |
|
respiratory |
11855930 |
| HADHA |
609015 |
Respiration-disorders |
|
respiratory |
#7738175 #8865274 #10400133 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Respiration-disorders |
|
respiratory |
#7846063 #9003853 #11855930 #14605499 |
| HADHA |
609015 |
Hyperventilation |
tachypnea
|
respiratory |
7738175 |
| HADHA |
609016 |
Hyperventilation |
tachypnea
|
respiratory |
14605499 |
| HADHA |
609015 |
Respiratory-insufficiency |
respiratory failure; respiratory distress; bronchiolitis; apnea; granular density in both lungs; shortness of breath; infection triggered
|
respiratory |
8865274 10400133 11855930 12971428 14630990 15902556 |
| HADHA |
609016 |
Respiratory-insufficiency |
respiratory distress; respiratory failure; acute respiratory distress syndrome; ARDS; cyanosis
|
respiratory |
7846063 9003853 11855930 14605499 |
| HADHA |
609015 |
Nervous-system-diseases |
|
neurologic |
#2019931 #7738175 #7748366 #8865274 #9739053 #10352164 #10400133 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Nervous-system-diseases |
|
neurologic |
#7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #10518281 #11855930 #12162610 #14605499 |
| HADHA |
609015 |
Central-nervous-system-diseases |
|
neurologic |
#9739053 #10352164 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Central-nervous-system-diseases |
|
neurologic |
#8931405 #9003853 #10352164 #10518281 #11855930 #12162610 #14605499 |
| HADHA |
609015 |
Brain-diseases |
|
neurologic |
#9739053 #10352164 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Brain-diseases |
|
neurologic |
#8931405 #9003853 #10352164 #10518281 #11855930 #12162610 #14605499 |
| HADHA |
609015 |
Brain-edema |
brain edema; diffuse
|
neurologic |
12971428 |
| HADHA |
609015 |
Encephalopathy |
metabolic encephalopathy
|
neurologic |
9739053 10352164 11855930 15902556 |
| HADHA |
609016 |
Encephalopathy |
encephalopathic; hepatic encephalopathy
|
neurologic |
8931405 10352164 14605499 |
| HADHA |
609015 |
Cerebrovascular-disorders |
|
neurologic |
#12971428 |
| HADHA |
609015 |
Intracranial-hemorrhages |
subependymal hemorrhage
|
neurologic |
12971428 |
| HADHA |
609015 |
Seizures |
hypoglycemia triggered; multifocal seizures
|
neurologic |
11855930 12971428 14630990 |
| HADHA |
609016 |
Seizures |
spasms; infantile spasms; epilepsy; tonic clonic seizures; hypoglycemic seizures; status epilepticus
|
neurologic |
9003853 10518281 11855930 12162610 14605499 |
| HADHA |
609016 |
Cerebral-atrophy |
brain atrophy
|
neurologic |
9003853 |
| HADHA |
609016 |
Electroencephalogram-abnormal |
background abnormal; hypsarrhythmia; discharges
|
neurologic |
9003853 11855930 |
| HADHA |
609016 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; bilateral symmetric; periventricular lesions; cortical lesions; parietooccipital lesions; white matter abnormal; gyri abnormal; global insult signs
|
neurologic |
9003853 11855930 |
| HADHA |
609015 |
Neurologic-manifestations |
|
neurologic |
#2019931 #7738175 #7748366 #8865274 #9739053 #10400133 #14630990 #15902556 |
| HADHA |
609016 |
Neurologic-manifestations |
|
neurologic |
#7846063 #8094173 #8736409 #9003853 #9403664 #10352164 #12162610 #14605499 |
| HADHA |
609015 |
Gait-disorders |
waddling; high steppage gait; steppage gait
|
neurologic |
7748366 |
| HADHA |
609015 |
Neurobehavioral-manifestations |
|
neurologic |
#7738175 #8865274 #10400133 |
| HADHA |
609016 |
Neurobehavioral-manifestations |
|
neurologic |
#7846063 #8094173 #8736409 #9003853 #10352164 #12162610 |
| HADHA |
609015 |
Consciousness-disorders |
coma; comatose state
|
neurologic |
8865274 10400133 |
| HADHA |
609016 |
Consciousness-disorders |
coma; somnolence; obtundation; intermittend loss of consciousness
|
neurologic |
7846063 8736409 9003853 10352164 12162610 |
| HADHA |
609016 |
Mental-retardation |
|
neurologic |
9003853 |
| HADHA |
609015 |
Developmental-delay |
psychomotor retardation; motor milestones delayed
|
neurologic |
9739053 15902556 |
| HADHA |
609016 |
Developmental-delay |
psychomotor retardation
|
neurologic |
9003853 9403664 14605499 |
| HADHA |
609015 |
Irritability |
|
neurologic |
8865274 |
| HADHA |
609015 |
Lethargy |
|
neurologic |
7738175 8865274 10400133 |
| HADHA |
609016 |
Lethargy |
drowsy
|
neurologic |
7846063 8094173 12162610 |
| HADHA |
609015 |
Neuromuscular-manifestations |
|
neurologic |
#2019931 #7738175 #7748366 #8865274 #9739053 #14630990 #15902556 |
| HADHA |
609016 |
Neuromuscular-manifestations |
|
neurologic |
#8094173 #8736409 #9003853 #9403664 #10352164 #12162610 #14605499 |
| HADHA |
609016 |
Muscle-spasticity |
spasticity; lower extremities
|
neurologic |
9003853 |
| HADHA |
609015 |
Muscle-hypotonia |
|
neurologic |
7738175 8865274 14630990 |
| HADHA |
609016 |
Muscle-hypotonia |
axial hypotonia; floppiness; hypotonia
|
neurologic |
8094173 8736409 9003853 9403664 10352164 12162610 14605499 |
| HADHA |
609015 |
Muscle-weakness |
episodes; facial weakness; wrist extension weakness; finger extension weakness
|
neurologic |
2019931 7748366 9739053 15902556 |
| HADHA |
609015 |
Muscular-atrophy |
muscle wasting; lower extremities; hands
|
neurologic |
15902556 |
| HADHA |
609016 |
Muscular-atrophy |
spinal muscular atrophy like
|
neurologic |
9003853 |
| HADHA |
609015 |
Muscle-aching-and-stiffness |
muscle pain; episodes
|
neurologic |
8865274 |
| HADHA |
609015 |
Reflexes-abnormal |
|
neurologic |
#15902556 |
| HADHA |
609016 |
Reflexes-abnormal |
|
neurologic |
#8094173 #9003853 |
| HADHA |
609015 |
Hyporeflexia |
areflexia; generalized
|
neurologic |
15902556 |
| HADHA |
609016 |
Hyporeflexia |
absent; diminished; deep tendon reflexes absent; areflexia
|
neurologic |
8094173 9003853 |
| HADHA |
609015 |
Peripheral-nervous-system-diseases |
|
neurologic |
#2019931 #7748366 #9739053 #10352164 #14630990 #15902556 |
| HADHA |
609016 |
Peripheral-nervous-system-diseases |
|
neurologic |
#9003853 |
| HADHA |
609015 |
Polyneuropathies |
sensorimotor neuropathy; peripheral neuropathy; axonopathy; secondary demyelination; polyneuropathy; foot drop
|
neurologic |
2019931 7748366 9739053 10352164 14630990 15902556 |
| HADHA |
609016 |
Polyneuropathies |
peripheral neuropathy
|
neurologic |
9003853 |
| HADHA |
609015 |
Eye-diseases |
|
ophthalmologic |
#8865274 #14630990 #15902556 |
| HADHA |
609016 |
Eye-diseases |
|
ophthalmologic |
#8094173 #8736409 #9003853 #9593380 #10352164 #12162610 #15347768 #15902556 |
| HADHA |
609016 |
Lens-diseases |
|
ophthalmologic |
#9593380 #15347768 |
| HADHA |
609016 |
Cataract |
flake like supranuclear opacities; opacities; developmental cataract
|
ophthalmologic |
9593380 15347768 |
| HADHA |
609016 |
Myopia |
progressive; axial myopia
|
ophthalmologic |
9003853 9593380 |
| HADHA |
609015 |
Retinal-diseases |
retinitis pigmentosa
|
ophthalmologic |
8865274 14630990 15902556 |
| HADHA |
609016 |
Retinal-diseases |
retinitis pigmentosa; pigmentary aggregations; retinal hypopigmentation; retinal atrophy; chorioretinal atrophy; retinopathy
|
ophthalmologic |
8094173 8736409 9003853 9593380 10352164 12162610 15347768 15902556 |
| HADHA |
609016 |
Macular-degeneration |
loss of macular vision
|
ophthalmologic |
9593380 |
| HADHA |
609016 |
Uveal-diseases |
|
ophthalmologic |
#9593380 |
| HADHA |
609016 |
Choroid-diseases |
occlusion of choroidal vessels; chorion atrophy; retina atrophy; chorioretinal atrophy; chorioretinal degeneration
|
ophthalmologic |
9593380 |
| HADHA |
609016 |
Vision-disorders |
amblyopia; central scotoma; choroidal vessel atrophy; central vision loss; posterior staphylomas; blindness
|
ophthalmologic |
9003853 #9593380 15347768 |
| HADHA |
609016 |
Color-vision-defects |
dyschromatopsia; color vision deficiency; tritanomaly
|
ophthalmologic |
9593380 |
| HADHA |
609016 |
Electroretinography-abnormal |
decrease in amplitude
|
ophthalmologic |
8736409 9003853 |
| HADHA |
609015 |
Genitourinary-diseases |
|
genitourinary |
#8865274 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Genitourinary-diseases |
|
genitourinary |
#7846063 #8094173 #8736409 #8931405 #10352164 #10518281 #12413376 #14605499 |
| HADHA |
609015 |
Urologic-diseases |
|
genitourinary |
#11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Urologic-diseases |
|
genitourinary |
#8094173 #8931405 #10352164 #12413376 |
| HADHA |
609015 |
Kidney-diseases |
|
genitourinary |
#11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Kidney-diseases |
|
genitourinary |
#8094173 #8931405 #10352164 #12413376 |
| HADHA |
609015 |
Renal-insufficiency |
renal failure; acute failure; oliguria; anuria
|
genitourinary |
11855930 12971428 15902556 |
| HADHA |
609016 |
Renal-insufficiency |
renal function impaired; proteinuria; renal failure
|
genitourinary |
8094173 8931405 10352164 12413376 |
| HADHA |
609015 |
Renal-fatty-infiltration |
lipid accumulation; renal tubulus
|
genitourinary |
14630990 |
| HADHA |
609015 |
Creatinine-levels-abnormal |
creatinine elevated
|
genitourinary |
12971428 |
| HADHA |
609016 |
Creatinine-levels-abnormal |
elevated
|
genitourinary |
8931405 |
| HADHA |
609015 |
Female-genital-diseases |
|
genitourinary |
#8865274 #14630990 |
| HADHA |
609016 |
Female-genital-diseases |
|
genitourinary |
#7846063 #8094173 #8736409 #8931405 #10352164 #10518281 #12413376 #14605499 |
| HADHA |
609015 |
Pregnancy-complications |
hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum
|
genitourinary |
8865274 14630990 |
| HADHA |
609016 |
Pregnancy-complications |
hypertension or hemolysis elevated liver enzymes and low platelets; HELLP syndrome; acute fatty liver of pregnancy; AFLP syndrome; hyperemesis gravidarum; preeclampsia; premature birth; perinatal morbidity; perinatal mortality; maternal morbidity; maternal mortality; obstetric risks
|
genitourinary |
7846063 8094173 8736409 8931405 10352164 10518281 12413376 14605499 |
| HADHA |
609015 |
Cardiovascular-diseases |
|
cardiovascular |
#2019931 #7738175 #7748366 #8865274 #9739053 #10352164 #10400133 #10577999 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Cardiovascular-diseases |
|
cardiovascular |
#7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #10518281 #11855930 #12413376 #14605499 #15902556 |
| HADHA |
609015 |
Congenital-heart-defects |
ductus arteriosus; left to right shunting; EKG findings
|
cardiovascular |
12971428 |
| HADHA |
609015 |
Heart-diseases |
|
cardiovascular |
#7738175 #7748366 #8865274 #9739053 #10352164 #10400133 #10577999 #11855930 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Heart-diseases |
|
cardiovascular |
#8094173 #8736409 #9003853 #9403664 #10352164 #10518281 #11855930 #14605499 #15902556 |
| HADHA |
609015 |
Arrhythmia |
intraventricular conduction delays; arrhythmias; conduction impairment; atrial tachycardias
|
cardiovascular |
7748366 9739053 10577999 |
| HADHA |
609016 |
Arrhythmia |
prolonged QT interval; bradycardia
|
cardiovascular |
8736409 11855930 |
| HADHA |
609015 |
Cardiomyopathy |
dilated; ventricular dilatation; myocardial fibrosis; myocarditis; inflammatory cells; cardiomegaly; intramyocardial lipids; lipid vacuolization; contractility abnormal
|
cardiovascular |
7738175 8865274 9739053 10352164 10400133 11855930 12971428 14630990 15902556 |
| HADHA |
609016 |
Cardiomyopathy |
cardiomegaly; hypertrophic; left ventricular; dilated; endomyocardial fibroelastosis; mitral valve abnormal
|
cardiovascular |
8094173 9003853 9403664 10352164 10518281 14605499 15902556 |
| HADHA |
609015 |
Cardiorespiratory-arrest |
sudden infant death
|
cardiovascular |
2019931 7738175 10400133 15902556 |
| HADHA |
609016 |
Cardiorespiratory-arrest |
sudden infant death; SIDS; cardiorespiratory failure; cardiac arrest; respiratory arrest
|
cardiovascular |
7846063 8094173 8931405 9003853 9403664 10352164 10518281 12413376 15902556 |
| HADHA |
609015 |
Vascular-diseases |
|
cardiovascular |
#11855930 #12971428 |
| HADHA |
609016 |
Vascular-diseases |
|
cardiovascular |
#11855930 |
| HADHA |
609015 |
Hypotension |
hypotensive
|
cardiovascular |
11855930 12971428 |
| HADHA |
609016 |
Hypotension |
hypotensive
|
cardiovascular |
11855930 |
| HADHA |
609016 |
Hematologic-diseases |
|
hematologic |
#8094173 #8931405 #9003853 #9403664 #10352164 #11855930 #12162610 #12413376 |
| HADHA |
609016 |
Anemia |
several patients had anemia; microangiopathic hemolytic anemia
|
hematologic |
8931405 9003853 9403664 |
| HADHA |
609016 |
Blood-coagulation-disorders |
partial thromboplastin time prolonged; prothrombin time prolonged; coagulopathy; intravascular coagulopathy
|
hematologic |
8094173 8931405 11855930 12413376 |
| HADHA |
609016 |
Blood-platelet-disorders |
|
hematologic |
#8094173 #8931405 #9003853 #10352164 |
| HADHA |
609016 |
Thrombocytopenia |
low platelet count
|
hematologic |
8094173 8931405 9003853 10352164 |
| HADHA |
609016 |
Blood-protein-disorders |
|
hematologic |
#9003853 #12162610 |
| HADHA |
609016 |
Hypoalbuminemia |
albumin levels decreased; total protein reduced; urinary protein
|
hematologic |
9003853 12162610 |
| HADHA |
609016 |
Bone-marrow-diseases |
proerythroblasts abnormal; proerythroblasts vacuolization
|
hematologic |
9003853 |
| HADHA |
609016 |
Hemoglobin-levels-abnormal |
hemoglobin deficiency
|
hematologic |
9403664 |
| HADHA |
609015 |
Skin-diseases |
|
dermatologic |
#7738175 |
| HADHA |
609016 |
Skin-diseases |
|
dermatologic |
#11855930 |
| HADHA |
609015 |
Paleness |
pale infant
|
dermatologic |
7738175 |
| HADHA |
609016 |
Paleness |
dusky; pale
|
dermatologic |
11855930 |
| HADHA |
609015 |
Metabolic-diseases |
|
metabolic |
#7738175 #8865274 #9739053 #10352164 #10400133 #11855930 #12838198 #12971428 #14630990 #15902556 |
| HADHA |
609016 |
Metabolic-diseases |
|
metabolic |
#7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #10518281 #11855930 #12162610 #12413376 #14605499 |
| HADHA |
609015 |
Acid-base-imbalance |
|
metabolic |
#8865274 #11855930 #12838198 #12971428 #14630990 |
| HADHA |
609016 |
Acid-base-imbalance |
|
metabolic |
#7846063 #8094173 #8736409 #9003853 #10352164 #11855930 #12162610 |
| HADHA |
609015 |
Acidosis |
lactic acidosis
|
metabolic |
8865274 11855930 12971428 14630990 |
| HADHA |
609016 |
Acidosis |
metabolic acidosis; lactic acidosis
|
metabolic |
7846063 8736409 9003853 10352164 11855930 |
| HADHA |
609015 |
Hypoketosis |
|
metabolic |
12838198 14630990 |
| HADHA |
609016 |
Hypoketosis |
ketonuria; fasting induced hypoketosis
|
metabolic |
8094173 11855930 12162610 |
| HADHA |
609015 |
Metabolic-brain-diseases |
|
metabolic |
#9739053 |
| HADHA |
609016 |
Metabolic-brain-diseases |
|
metabolic |
#8094173 #8736409 #8931405 #10518281 |
| HADHA |
609015 |
Reye-like-symptoms |
reye syndrome like
|
metabolic |
9739053 |
| HADHA |
609016 |
Reye-like-symptoms |
reye syndrome like; reye like episodes
|
metabolic |
8094173 8736409 8931405 10518281 |
| HADHA |
609016 |
Dyslipidemias |
|
metabolic |
#12162610 |
| HADHA |
609016 |
Hypocholesterolemia |
cholesterol levels decreased
|
metabolic |
12162610 |
| HADHA |
609015 |
Glucose-metabolism-disorders |
|
metabolic |
#7738175 #8865274 #9739053 #10352164 #10400133 #11855930 #14630990 |
| HADHA |
609016 |
Glucose-metabolism-disorders |
|
metabolic |
#7846063 #8094173 #8736409 #8931405 #9003853 #9403664 #10352164 #11855930 #12162610 #14605499 |
| HADHA |
609015 |
Hypoglycemia |
hypoketotic hypoglycemia
|
metabolic |
7738175 8865274 9739053 10352164 10400133 11855930 14630990 |
| HADHA |
609016 |
Hypoglycemia |
transient; neonatal; hypoketotic hypoglycemia
|
metabolic |
7846063 8094173 8736409 8931405 9003853 9403664 10352164 11855930 12162610 14605499 |
| HADHA |
609015 |
Hyperammonemia |
ammonia levels elevated; mild
|
metabolic |
10400133 11855930 12971428 |
| HADHA |
609016 |
Hyperammonemia |
ammonia levels elevated; ammonemia; blood ammonia increased
|
metabolic |
8736409 8931405 11855930 12162610 |
| HADHA |
609016 |
Hyperbilirubinemia |
bilirubin elevated; jaundice
|
metabolic |
8931405 9003853 9403664 10518281 12162610 12413376 14605499 |
| HADHA |
609016 |
Hyperuricemia |
uric acid levels elevated
|
metabolic |
8931405 |
| HADHA |
609016 |
Aminoacid-levels-abnormal |
hypertyrosinemia; tyrosine elevated; branched chain amino acids decreased
|
metabolic |
9003853 |
| HADHA |
609016 |
Phosphorus-metabolism-disorders |
|
metabolic |
#9403664 |
| HADHA |
609016 |
Hyperphosphatemia |
hypoparathyroidism related
|
metabolic |
9403664 |
| HADHA |
609015 |
Water-electrolyte-imbalance |
|
metabolic |
#9739053 #11855930 |
| HADHA |
609016 |
Water-electrolyte-imbalance |
|
metabolic |
#9403664 #10352164 #10518281 #11855930 |
| HADHA |
609015 |
Dehydration |
dehydration triggered episodes
|
metabolic |
9739053 |
| HADHA |
609016 |
Hyperkalemia |
potassium levels elevated
|
metabolic |
11855930 |
| HADHA |
609015 |
Hypocalcemia |
calcium levels abnormal
|
metabolic |
11855930 |
| HADHA |
609016 |
Hypocalcemia |
hypocalcemia; 25 hydroxyvitamin decreased
|
metabolic |
9403664 10352164 10518281 11855930 |
| HADHA |
609015 |
Acylcarnitine-profile-abnormal |
plasma; blood spots; elevated long chain 3 hydroxy acylcarnitines; elevated 3 hydroxy tetradecanoylcarnitines; elevated 3 hydroxy hexadecanoylcarnitines; elevated 3 hydroxy oleylcarnitines; elevated 3 hydroxy stearoylcarnitines; elevated 3 hydroxy C16:0 C16:1 C1
|
metabolic |
10400133 12838198 12971428 15902556 |
| HADHA |
609016 |
Acylcarnitine-profile-abnormal |
elevated long chain acylcarnitines; elevated 3 hydroxy acylcarnitines
|
metabolic |
11855930 12162610 14605499 |
| HADHA |
609016 |
Acylglycine-profile-abnormal |
hexanoylglycine elevated; phenylpropionylglycine elevated
|
metabolic |
11855930 |
| HADHA |
609016 |
Carnitine-levels-abnormal |
decreased total carnitine; decreased free carnitine; elevated esterified carnitine
|
metabolic |
8736409 8931405 9003853 11855930 |
| HADHA |
609015 |
Fatty-acids-abnormal |
intrahepatic accumulation; long chain fatty acids elevated
|
metabolic |
8865274 |
| HADHA |
609016 |
Fatty-acids-abnormal |
fatty acid oxidation defect; long chain fatty acid oxidation metabolites abnormal; plasma fatty acids elevated
|
metabolic |
10518281 12162610 |
| HADHA |
609015 |
Organic-acids-abnormal |
lactic aciduria; dicarboxylic aciduria; 3 hydroxydicarboxylic aciduria
|
metabolic |
7738175 8865274 10400133 11855930 12838198 |
| HADHA |
609016 |
Organic-acids-abnormal |
3 hydroxyacyldicarboxylic aciduria; dicarboxylic aciduria; adipic aciduria; suberic aciduria; sebacic aciduria; 3 hydroxylated sebacic aciduria; dodecanedioic aciduria; tetradecanedioic aciduria; 4 hydroxyphenyllactate elevated; hydroxyphenylpyruvate elevated; urinary protein
|
metabolic |
7846063 8094173 8736409 8931405 9003853 11855930 12162610 14605499 |
| HADHA |
609015 |
Dicarboxylic-aciduria |
|
metabolic |
7738175 8865274 11855930 |
| HADHA |
609016 |
Dicarboxylic-aciduria |
dicarboxylic acids elevated; hydroxy dicarboxylic aciduria; adipic aciduria
|
metabolic |
8094173 8736409 8931405 9003853 11855930 |
| HADHA |
609016 |
Endocrine-system-diseases |
|
endocrinologic |
#9403664 |
| HADHA |
609016 |
Parathyroid-diseases |
|
endocrinologic |
#9403664 |
| HADHA |
609016 |
Hypoparathyroidism |
parathyroid aplasia; parathyroid hypoplasia
|
endocrinologic |
9403664 |
| HADHA |
609015 |
Immune-system-diseases |
|
immunologic |
#2019931 #8865274 #9739053 #14630990 |
| HADHA |
609016 |
Immune-system-diseases |
|
immunologic |
#8094173 #9003853 #14605499 #15902556 |
| HADHA |
609015 |
Infections |
respiratory tract infections; infection triggered episodes
|
immunologic |
2019931 8865274 9739053 14630990 |
| HADHA |
609016 |
Infections |
recurrent; urinary tract infections
|
immunologic |
8094173 9003853 14605499 15902556 |
| HADHA |
609015 |
Body-temperature-changes |
|
miscellaneous |
#9739053 |
| HADHA |
609016 |
Body-temperature-changes |
|
miscellaneous |
#8736409 |
| HADHA |
609015 |
Fever |
fever triggered episodes
|
miscellaneous |
9739053 |
| HADHA |
609016 |
Fever |
|
miscellaneous |
8736409 |
| HADHA |
609015 |
Edema |
generalized edema
|
miscellaneous |
12971428 |
| HADHA |
609015 |
Exercise-intolerance |
gowers maneuver abnormal; fatigue; stair climbing abnormal
|
miscellaneous |
7748366 15902556 |
| HADHA |
609016 |
Growth-disorders |
|
miscellaneous |
#9003853 #12162610 #15902556 |
| HADHA |
609016 |
Failure-to-thrive |
|
miscellaneous |
9003853 12162610 15902556 |
| HADHA |
609016 |
Mitochondria-abnormal |
irregular; high matrix density; cristae abnormal
|
miscellaneous |
8736409 |
| HADHA |
609016 |
Alkaline-phosphatase-abnormal |
elevated
|
miscellaneous |
10518281 |
| HADHA |
609015 |
Creatine-kinase-abnormal |
elevated
|
miscellaneous |
7748366 10400133 11855930 |
| HADHA |
609016 |
Creatine-kinase-abnormal |
elevated
|
miscellaneous |
8736409 9003853 12162610 15902556 |
