| ALDH5A1 |
271980 |
Musculoskeletal-diseases |
|
musculoskeletal |
#9093300 |
| ALDH5A1 |
271980 |
Joint-diseases |
|
musculoskeletal |
#9093300 |
| ALDH5A1 |
271980 |
Joint-instability |
joint hypermobility; laxity; laxity of ligaments
|
musculoskeletal |
9093300 |
| ALDH5A1 |
271980 |
Craniofacial-abnormalities |
|
musculoskeletal |
#9093300 |
| ALDH5A1 |
271980 |
Microcephaly |
|
musculoskeletal |
9093300 |
| ALDH5A1 |
271980 |
Macrocephaly |
|
musculoskeletal |
9093300 |
| ALDH5A1 |
271980 |
Digestive-system-diseases |
|
gastrointestinal |
#9093300 #12743223 |
| ALDH5A1 |
271980 |
Gastrointestinal-diseases |
gastrointestinal symptoms
|
gastrointestinal |
12743223 |
| ALDH5A1 |
271980 |
Liver-diseases |
|
gastrointestinal |
#9093300 |
| ALDH5A1 |
271980 |
Hepatomegaly |
mild
|
gastrointestinal |
9093300 |
| ALDH5A1 |
271980 |
Feeding-difficulties |
|
gastrointestinal |
9093300 |
| ALDH5A1 |
271980 |
Diarrhea |
chronic
|
gastrointestinal |
9093300 |
| ALDH5A1 |
271980 |
Vomiting |
emesis
|
gastrointestinal |
9093300 |
| ALDH5A1 |
271980 |
Respiratory-tract-diseases |
|
respiratory |
#9093300 |
| ALDH5A1 |
271980 |
Lung-diseases |
|
respiratory |
#9093300 |
| ALDH5A1 |
271980 |
Pneumonia |
febrile pneumonia
|
respiratory |
9093300 |
| ALDH5A1 |
271980 |
Respiration-disorders |
respiratory distress; recurrent
|
respiratory |
9093300 |
| ALDH5A1 |
271980 |
Nervous-system-diseases |
|
neurologic |
#7726383 #8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Central-nervous-system-diseases |
|
neurologic |
#7726383 #8803774 #9093300 #9266358 #12743223 #14512218 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Brain-diseases |
|
neurologic |
#9093300 #9266358 #12743223 #14512218 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Encephalopathy |
slowly progressive; static encephalopathy
|
neurologic |
12743223 15059623 |
| ALDH5A1 |
271980 |
Seizures |
grand mal epilepsy; epilepsy; spasms; myoclonic; tonic clonic seizures; status epilepticus
|
neurologic |
9093300 9266358 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Cerebellar-atrophy |
decreased cerebellar size; cerebellar hypometabolism; cerebellar atrophy; vermian atrophy; cerebellar vermis atrophy; retrocerebellar cysts; cerebellar hypoplasia; MRI findings
|
neurologic |
9093300 12743223 14512218 15059623 15287248 |
| ALDH5A1 |
271980 |
Cerebral-atrophy |
|
neurologic |
12743223 |
| ALDH5A1 |
271980 |
Electroencephalogram-abnormal |
diffusely; slow; multifocal; sharp and slow waves; epileptiform; paroxysmal abnormalities; focal activities in temporo occipital region; spike wave discharges; spindle asymmetry; spike discharges; focal spikes
|
neurologic |
9093300 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Movement-disorders |
stereotypical motor movements; catatonic posturing; hyperkinetic movement disorder
|
neurologic |
#7726383 #9093300 14512218 |
| ALDH5A1 |
271980 |
Choreatic-disorders |
choreoathetosis; choreiform movements; involuntary movements
|
neurologic |
7726383 9093300 |
| ALDH5A1 |
271980 |
Dystonic-disorders |
dystonia
|
neurologic |
7726383 |
| ALDH5A1 |
271980 |
Athetosis |
choreoathetosis
|
neurologic |
7726383 |
| ALDH5A1 |
271980 |
Neuronal-loss-and-lesions |
MRI findings; signal intensity abnormalities; white matter abnormal; subcortical abnormalities; demyelination; globus pallidus abnormal; bilateral symmetric; dentate nuclei abnormal
|
neurologic |
8803774 9093300 12743223 14512218 |
| ALDH5A1 |
271980 |
Neurologic-manifestations |
|
neurologic |
#8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Ataxia |
severe; dysmetria; appendicular ataxia; non progressive ataxia; ataxic
|
neurologic |
9093300 9683595 10234622 12743223 |
| ALDH5A1 |
271980 |
Gait-disorders |
unsteady gait; falling; broad based gait; balance problems
|
neurologic |
9093300 15287248 |
| ALDH5A1 |
271980 |
Neurobehavioral-manifestations |
|
neurologic |
#8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15287248 |
| ALDH5A1 |
271980 |
Speech-disorders |
inability to produce intelligible words; speech delay; language disorder; mutism; incomprehensible language
|
neurologic |
8803774 9093300 9683595 11901270 12743223 14512218 15037717 15287248 |
| ALDH5A1 |
271980 |
Confusion |
disorientation; episodes; spatial disorientation; temporal disorientation
|
neurologic |
14512218 |
| ALDH5A1 |
271980 |
Consciousness-disorders |
sudden unconsciousness; narcolepsy like
|
neurologic |
15287248 |
| ALDH5A1 |
271980 |
Mental-retardation |
mild; severe; variable degrees of mental retardation
|
neurologic |
9093300 9683595 12743223 14512218 |
| ALDH5A1 |
271980 |
Perceptual-disorders |
verbal agnosia; disorders in perceptual analysis; comprehension deficit; hallucinations; auditory hallucinations; visual hallucinations; comprehension
|
neurologic |
#9093300 #12743223 #14512218 15287248 |
| ALDH5A1 |
271980 |
Hallucinations |
auditory hallucinations; visual hallucinations; hypnagogic hallucinations; hallucinatory episodes
|
neurologic |
9093300 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Developmental-delay |
mild; severe; psychomotor retardation; coordination; language delay; speech disturbance; speech delay; motor delay; coordination impaired
|
neurologic |
8803774 9093300 9266358 9683595 10234622 11901270 12743223 14512218 15037717 15059623 15287248 |
| ALDH5A1 |
271980 |
Psychomotor-agitation |
hyperkinesis; concentration deficit; restless; attention span limited; attention deficit; inattention; hyperactivity; hyperactive; hyperkinetic; agitated; agitation
|
neurologic |
8803774 9093300 9266358 10234622 11901270 12743223 14512218 |
| ALDH5A1 |
271980 |
Lethargy |
flaccidity; lethargic; drowsiness; apathetic
|
neurologic |
9093300 9266358 15287248 |
| ALDH5A1 |
271980 |
Neuromuscular-manifestations |
|
neurologic |
#9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Muscle-hypotonia |
no weakness; nonparalytic hypotonia; hypotonic
|
neurologic |
9093300 9266358 9683595 10234622 11901270 12743223 15059623 15287248 |
| ALDH5A1 |
271980 |
Muscular-atrophy |
type 2 fiber atrophy; nonspecific
|
neurologic |
9093300 |
| ALDH5A1 |
271980 |
Reflexes-abnormal |
|
neurologic |
#9093300 #9266358 #9683595 #12743223 #15059623 |
| ALDH5A1 |
271980 |
Hyporeflexia |
decreased; areflexia; deep tendon reflexes absent
|
neurologic |
9093300 9266358 9683595 12743223 15059623 |
| ALDH5A1 |
271980 |
Sleep-disorders |
sleep disturbance; inversion of nyctohemeral rhythm; daytime sleepiness; narcolepsy like symptoms; narcolepsy
|
neurologic |
8803774 9093300 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Sleep-bruxism |
teeth grinding
|
neurologic |
8803774 9093300 15287248 |
| ALDH5A1 |
271980 |
Eye-diseases |
|
ophthalmologic |
#7726383 #9093300 #9266358 #10234622 |
| ALDH5A1 |
271980 |
Ocular-motility-disorders |
|
ophthalmologic |
#9093300 #9266358 #10234622 |
| ALDH5A1 |
271980 |
Pathologic-nystagmus |
optokinetic nystagmus; horizontal nystagmus
|
ophthalmologic |
9093300 9266358 |
| ALDH5A1 |
271980 |
Strabismus |
alternating strabismus; squint; convergent squint
|
ophthalmologic |
9093300 10234622 |
| ALDH5A1 |
271980 |
Optic-nerve-diseases |
optic atrophy
|
ophthalmologic |
7726383 |
| ALDH5A1 |
271980 |
Retinal-diseases |
retinitis pigmentosa
|
ophthalmologic |
7726383 |
| ALDH5A1 |
271980 |
Vision-disorders |
poor sight
|
ophthalmologic |
9266358 |
| ALDH5A1 |
271980 |
Cardiovascular-diseases |
|
cardiovascular |
#9093300 |
| ALDH5A1 |
271980 |
Heart-diseases |
|
cardiovascular |
#9093300 |
| ALDH5A1 |
271980 |
Cardiomyopathy |
hypertrophic; left ventricle
|
cardiovascular |
9093300 |
| ALDH5A1 |
271980 |
Vascular-diseases |
|
cardiovascular |
#9093300 |
| ALDH5A1 |
271980 |
Telangiectasis |
vascular telangiectasia; vascular telangiectasia of bulbar conjunctiva
|
cardiovascular |
9093300 |
| ALDH5A1 |
271980 |
Skin-diseases |
|
dermatologic |
#9093300 |
| ALDH5A1 |
271980 |
Paleness |
pale
|
dermatologic |
9093300 |
| ALDH5A1 |
271980 |
Metabolic-diseases |
|
metabolic |
#7726383 #8803774 #9093300 #9266358 #9683595 #10234622 #11901270 #12743223 #14512218 #15037717 #15059623 #15287248 |
| ALDH5A1 |
271980 |
Metabolic-brain-diseases |
MRS findings; magnetic resonance spectroscopy; GABA levels abnormal; GHB levels abnormal; GABA accumulation; white matter abnormal; gray matter abnormal; cerebellar hypometabolism
|
metabolic |
12743223 15037717 |
| ALDH5A1 |
271980 |
Aminoacid-levels-abnormal |
hyperglycinemia
|
metabolic |
12743223 |
| ALDH5A1 |
271980 |
Aminoaciduria |
glycinuria
|
metabolic |
12743223 |
| ALDH5A1 |
271980 |
Water-electrolyte-imbalance |
|
metabolic |
#9093300 |
| ALDH5A1 |
271980 |
Dehydration |
|
metabolic |
9093300 |
| ALDH5A1 |
271980 |
Carnitine-levels-abnormal |
|
metabolic |
9093300 |
| ALDH5A1 |
271980 |
Organic-acids-abnormal |
"4 hydroxybutyric aciduria; 3 hydroxypropionic aciduria; 3,4 dihydroxybutyric aciduria; glycolicaciduria; 4,5 dihydroxyhexanoic aciduria; gamma hydroxybutyric aciduria"
|
metabolic |
7726383 8803774 9093300 9266358 9683595 10234622 11901270 12743223 14512218 15037717 15059623 15287248 |
| ALDH5A1 |
271980 |
Hydroxypropionic-aciduria |
3 hydroxypropionic acids elevated
|
metabolic |
7726383 9093300 |
| ALDH5A1 |
271980 |
Endocrine-system-diseases |
|
endocrinologic |
#9266358 |
| ALDH5A1 |
271980 |
Gonadal-disorders |
|
endocrinologic |
#9266358 |
| ALDH5A1 |
271980 |
Sex-differentiation-disorders |
underdeveloped genitalia; secondary sexual characteristics absent
|
endocrinologic |
9266358 |
| ALDH5A1 |
271980 |
Immune-system-diseases |
|
immunologic |
#9093300 |
| ALDH5A1 |
271980 |
Infections |
recurrent; respiratory tract infections
|
immunologic |
9093300 |
| ALDH5A1 |
271980 |
Psychiatric-disorders |
|
psychiatric |
#9093300 #9266358 #9683595 #10234622 #12743223 #14512218 #15037717 #15287248 |
| ALDH5A1 |
271980 |
Behavioral-symptoms |
behavioural problems; behavior abnormal; behavioral abnormalities; unsusual behavior; uncooperative; episodes; excitable behavior; behavioral difficulties; tantrums
|
psychiatric |
9093300 9683595 10234622 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Aggression |
aggressiveness; aggressive behavior; aggressive episodes
|
psychiatric |
12743223 14512218 |
| ALDH5A1 |
271980 |
Self-injurious-behavior |
skin picking; hyperactivity and self injurious behavior
|
psychiatric |
9093300 12743223 |
| ALDH5A1 |
271980 |
Mental-disorders |
|
psychiatric |
#9093300 #9266358 #9683595 #10234622 #12743223 #14512218 #15037717 #15287248 |
| ALDH5A1 |
271980 |
Anxiety-disorders |
episodes; afraid; fearful; increased anxiety; severe anxiety and mutism; disabling anxiety; anxiety
|
psychiatric |
12743223 14512218 15037717 15287248 |
| ALDH5A1 |
271980 |
Obsessive-compulsive-disorder |
OCD
|
psychiatric |
12743223 |
| ALDH5A1 |
271980 |
Autistic-disorder |
autism; mild autism; pervasive developmental disorder (PDD); autistic features
|
psychiatric |
9266358 9683595 10234622 12743223 |
| ALDH5A1 |
271980 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#9093300 #9266358 #12743223 #14512218 #15287248 |
| ALDH5A1 |
271980 |
Psychotic-disorders |
psychosis; psychoses; psychotic; hallucinations; haloperidol responsive; psychotic episodes; stereotypical psychotic aspects
|
psychiatric |
9093300 9266358 12743223 14512218 15287248 |
| ALDH5A1 |
271980 |
Body-temperature-changes |
|
miscellaneous |
#9093300 |
| ALDH5A1 |
271980 |
Fever |
|
miscellaneous |
9093300 |
| ALDH5A1 |
271980 |
Dysmorphism-and-abnormalities |
hypertelorism; epicanthal folds; face abnormalities
|
miscellaneous |
9093300 |
| ALDH5A1 |
271980 |
GABA-levels-abnormal |
GABA levels increased; gamma aminobutyric acid elevated; 4 aminobutyric acid elevated; serum; CSF
|
miscellaneous |
10234622 11901270 14512218 |
