| AUH |
250950 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9762598 |
| AUH |
250950 |
Bone-diseases |
|
musculoskeletal |
#9762598 |
| AUH |
250950 |
Spinal-diseases |
scoliosis
|
musculoskeletal |
9762598 |
| AUH |
250950 |
Craniofacial-abnormalities |
|
musculoskeletal |
#9762598 |
| AUH |
250950 |
Microcephaly |
|
musculoskeletal |
9762598 |
| AUH |
250950 |
Digestive-system-diseases |
|
gastrointestinal |
#9762598 |
| AUH |
250950 |
Liver-diseases |
|
gastrointestinal |
#9762598 |
| AUH |
250950 |
Hepatomegaly |
|
gastrointestinal |
9762598 |
| AUH |
250950 |
Feeding-difficulties |
gastroesophageal reflux
|
gastrointestinal |
9762598 |
| AUH |
250950 |
Vomiting |
gastroesophageal reflux
|
gastrointestinal |
9762598 |
| AUH |
250950 |
Respiratory-tract-diseases |
|
respiratory |
#9762598 |
| AUH |
250950 |
Respiration-disorders |
|
respiratory |
#9762598 |
| AUH |
250950 |
Hyperventilation |
persistent tachypnea; transient tachypnoea
|
respiratory |
9762598 |
| AUH |
250950 |
Nervous-system-diseases |
|
neurologic |
#3082934 #6181239 #9762598 #10896289 #12434311 #15033206 |
| AUH |
250950 |
Central-nervous-system-diseases |
|
neurologic |
#6181239 #9762598 #10896289 #15033206 |
| AUH |
250950 |
Brain-diseases |
|
neurologic |
#6181239 #9762598 #10896289 #15033206 |
| AUH |
250950 |
Basal-ganglia-diseases |
atrophy; basal ganglia atrophy
|
neurologic |
6181239 9762598 |
| AUH |
250950 |
Encephalopathy |
hypoxic ischemic
|
neurologic |
9762598 |
| AUH |
250950 |
Seizures |
tonic clonic seizures
|
neurologic |
9762598 10896289 15033206 |
| AUH |
250950 |
Movement-disorders |
|
neurologic |
#9762598 #10896289 |
| AUH |
250950 |
Dystonic-disorders |
dystonic; involuntary movements; dystonic cerebral palsy
|
neurologic |
9762598 10896289 |
| AUH |
250950 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; basal ganglia abnormal; basal ganglia atrophy; globus pallidus abnormal; white matter abnormal
|
neurologic |
9762598 |
| AUH |
250950 |
Neurologic-manifestations |
|
neurologic |
#3082934 #6181239 #9762598 #10896289 #12434311 |
| AUH |
250950 |
Neurobehavioral-manifestations |
|
neurologic |
#3082934 #6181239 #9762598 #10896289 #12434311 |
| AUH |
250950 |
Speech-disorders |
speech development retarded; speech retardation; partial dyslalia
|
neurologic |
6181239 10896289 12434311 |
| AUH |
250950 |
Consciousness-disorders |
coma
|
neurologic |
3082934 10896289 |
| AUH |
250950 |
Mental-retardation |
moderate
|
neurologic |
9762598 |
| AUH |
250950 |
Developmental-delay |
psychomotor retardation; speech retardation
|
neurologic |
3082934 10896289 12434311 |
| AUH |
250950 |
Psychomotor-agitation |
attention deficit; short attention span; hyperactivity
|
neurologic |
3082934 10896289 |
| AUH |
250950 |
Irritability |
screaming
|
neurologic |
9762598 |
| AUH |
250950 |
Neuromuscular-manifestations |
|
neurologic |
#9762598 #10896289 |
| AUH |
250950 |
Muscle-hypertonia |
|
neurologic |
9762598 |
| AUH |
250950 |
Muscle-spasticity |
paraplegia; cerebral palsy; spastic quadriplegia
|
neurologic |
9762598 10896289 |
| AUH |
250950 |
Muscle-hypotonia |
|
neurologic |
9762598 10896289 |
| AUH |
250950 |
Paralysis-Paresis |
paraplegia; cerebral palsy; spastic quadriplegia
|
neurologic |
9762598 10896289 |
| AUH |
250950 |
Reflexes-abnormal |
|
neurologic |
#9762598 |
| AUH |
250950 |
Hyperreflexia |
generalized hyperreflexia
|
neurologic |
9762598 |
| AUH |
250950 |
Sleep-disorders |
insomnia
|
neurologic |
9762598 |
| AUH |
250950 |
Genitourinary-diseases |
|
genitourinary |
#10896289 |
| AUH |
250950 |
Urologic-diseases |
|
genitourinary |
#10896289 |
| AUH |
250950 |
Urination-disorders |
enuresis; urinary incontinence
|
genitourinary |
10896289 |
| AUH |
250950 |
Metabolic-diseases |
|
metabolic |
#3082934 #6181239 #9762598 #10896289 #12434311 #12655555 #15033206 |
| AUH |
250950 |
Acid-base-imbalance |
|
metabolic |
#3082934 #9762598 |
| AUH |
250950 |
Acidosis |
hyperchloraemic acidosis
|
metabolic |
3082934 9762598 |
| AUH |
250950 |
Metabolic-brain-diseases |
|
metabolic |
#10896289 |
| AUH |
250950 |
Reye-like-symptoms |
reye syndrome like
|
metabolic |
10896289 |
| AUH |
250950 |
Glucose-metabolism-disorders |
|
metabolic |
#3082934 #9762598 |
| AUH |
250950 |
Hypoglycemia |
epsisodic
|
metabolic |
3082934 9762598 |
| AUH |
250950 |
Acylcarnitine-profile-abnormal |
elevated 3 hydroxyisovalerylcarnitine; elevated C5 hydroxy acylcarnitine
|
metabolic |
12655555 15033206 |
| AUH |
250950 |
Carnitine-levels-abnormal |
free carnitine abnormal; decreased
|
metabolic |
9762598 12655555 |
| AUH |
250950 |
Organic-acids-abnormal |
3 methylglutaconic aciduria; 3 methylglutaric aciduria; 3 hydroxyisovaleric aciduria
|
metabolic |
#3082934 6181239 9762598 10896289 12434311 12655555 15033206 |
| AUH |
250950 |
Hydroxyisovaleric-aciduria |
3 hydroxyisovaleric acid elevated
|
metabolic |
6181239 9762598 10896289 12434311 12655555 15033206 |
| AUH |
250950 |
Methylglutaconic-aciduria |
3 methylglutaconic acids elevated
|
metabolic |
3082934 6181239 9762598 10896289 12434311 12655555 15033206 |
| AUH |
250950 |
Immune-system-diseases |
|
immunologic |
#9762598 #15033206 |
| AUH |
250950 |
Infections |
bronchiolitis; viral infections; respiratory tract infections
|
immunologic |
9762598 15033206 |
| AUH |
250950 |
Psychiatric-disorders |
|
psychiatric |
#9762598 |
| AUH |
250950 |
Behavioral-symptoms |
|
psychiatric |
#9762598 |
| AUH |
250950 |
Self-injurious-behavior |
self injurious; self mutilation
|
psychiatric |
9762598 |
| AUH |
250950 |
Body-temperature-changes |
|
miscellaneous |
#15033206 |
| AUH |
250950 |
Fever |
|
miscellaneous |
15033206 |
| AUH |
250950 |
Growth-disorders |
|
miscellaneous |
#9762598 |
| AUH |
250950 |
Growth-deficiency |
|
miscellaneous |
9762598 |
| AUH |
250950 |
Creatine-kinase-abnormal |
elevated creatine kinase
|
miscellaneous |
9762598 |
