Total 27 clinical symptoms reported for Peroxisome biogenesis disorder
| Abnormal palate morphology |
Any abnormality of the palate, i.e., of roof of the mouth.
Synonyms:Abnormality of the roof of the mouth; Palatal anomaly; Palate abnormality; Abnormality of the palate |
Very frequent |
| Abnormality of movement |
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Synonyms:Abnormality of movement; Movement disorder; Unusual movement |
Very frequent |
| Abnormality of the liver |
An abnormality of the liver.
Synonyms:Abnormal liver; Abnormality of the liver; Liver abnormality |
Very frequent |
| Anteverted nares |
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils |
Very frequent |
| Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
| Dolichocephaly |
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Synonyms:Long, narrow head; Tall and narrow skull |
Very frequent |
| High forehead |
An abnormally increased height of the forehead.
Synonyms:High forehead |
Very frequent |
| Hyperreflexia |
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Synonyms:Increased deep tendon reflexes; Increased reflexes |
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 |
| Low-set, posteriorly rotated ears |
Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358).
Synonyms:Low-set posteriorly rotated ears |
Very frequent |
| Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Very frequent |
| Optic atrophy |
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Synonyms:Optic nerve atrophy; Optic-nerve degeneration |
Very frequent |
| Primary adrenal insufficiency |
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves.
Synonyms:Adrenocortical insufficiency; Primary adrenocortical failure |
Very frequent |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterised 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 |
| Severe global developmental delay |
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Synonyms:Global developmental delay, severe |
Very frequent |
| Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
| Strabismus |
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Synonyms:Cross-eyed; Squint; Squint eyes |
Very frequent |
| Wide nasal bridge |
Increased breadth of the nasal bridge (and with it, the nasal root).
Synonyms:Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge |
Very frequent |