Total 37 clinical symptoms reported for Phytanic acid storage disease
Abnormal foot morphology |
An abnormality of the skeleton of foot.
Synonyms:Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity |
Very frequent |
Abnormal pyramidal sign |
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Synonyms:Corticospinal signs; Pyramidal signs; Pyramidal tract signs |
Very frequent |
Abnormality of retinal pigmentation |
Synonyms:Abnormal retinal pigmentation; Abnormality of retinal pigment epithelium; Abnormality of RPE; Retinal pigmentary anomaly |
Very frequent |
Abnormality of the eye |
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.
Synonyms:Abnormal eye; Abnormality of the eye |
Very frequent |
Abnormality of vision |
Abnormality of eyesight (visual perception).
Synonyms:Abnormality of sight; Abnormality of vision; Vision issue |
Very frequent |
Anosmia |
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Synonyms:Loss of smell; Lost smell |
Very frequent |
Ataxia |
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
Cardiomyopathy |
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Synonyms:Disease of the heart muscle |
Very frequent |
Cataract |
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity |
Very frequent |
Dry skin |
Skin characterized by the lack of natural or normal moisture.
Synonyms:Dry skin; Xerosis |
Very frequent |
Hemiplegia/hemiparesis |
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Synonyms:Paralysis or weakness of one side of body |
Very frequent |
Ichthyosis |
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Synonyms:Ichthyosiform abnormality of the skin; Ichthyotic skin |
Very frequent |
Nail dysplasia |
The presence of developmental dysplasia of the nail.
Synonyms:Atypical nail growth; Dysplastic nails; Onychodysplasia |
Very frequent |
Peripheral neuropathy |
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Synonyms:Peripheral nerve damage; Peripheral neuritis |
Very frequent |
Retinopathy |
Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality.
Synonyms:Noninflammatory retina disease |
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 |
Skeletal dysplasia |
A general term describing features characterized by abnormal development of bones and connective tissues.
|
Very frequent |