Total 27 clinical symptoms reported for Acyl-CoA oxidase deficiency
| Abnormal electroretinogram |
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
Synonyms:Abnormal electroretinography; Abnormal ERG; ERG abnormal |
Very frequent |
| Abnormal nervous system morphology |
A structural anomaly of the nervous system.
Synonyms:Abnormal shape of nervous system; Abnormality of nervous system morphology |
Very frequent |
| Abnormal speech pattern |
An abnormality in the sound (volume) or cadence (rate) of speech.
Synonyms:Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization |
Very frequent |
| Abnormality of metabolism/homeostasis |
Synonyms:Laboratory abnormality; Metabolism abnormality |
Very frequent |
| Abnormality of visual evoked potentials |
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Synonyms:Abnormal vision evoked potentials; Abnormal visual evoked potential; Abnormal visual evoked responses; Abnormal visual-evoked potentials; VEP abnormalities |
Very frequent |
| Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
| Gait disturbance |
The term gait disturbance can refer to any disruption of the ability to walk.
Synonyms:Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability |
Very frequent |
| Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
| Hyperreflexia |
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Synonyms:Increased deep tendon reflexes; Increased reflexes |
Very frequent |
| Hypodontia |
The absence of five or less teeth from the normal series by a failure to develop.
Synonyms:Failure of development of between one and six teeth |
Very frequent |
| Hypotonia |
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia |
Very frequent |
| Intellectual disability, severe |
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Synonyms:Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation |
Very frequent |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |
| Sensorineural hearing impairment |
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Synonyms:Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss |
Very frequent |