Phenotypes associated with the disease Superficial siderosis (ORPHA:247245):
- Ataxia (HP:0001251): Ataxia refers to impaired coordination of voluntary muscle movement. 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). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247245)
- Bilateral sensorineural hearing impairment (HP:0008619): A form of sensorineural hearing impairment that affects both ears. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247245)
- Abnormal vestibulocochlear nerve morphology (HP:0009591): Any structural anomaly of the vestibulocochlear nerve. The vestibulocochlear nerve consists of the vestibular and cochlear nerves, also known as cranial nerve eight (CN VIII). Each nerve has distinct nuclei within the brainstem. The vestibular nerve is primarily responsible for maintaining body balance and eye movements, while the cochlear nerve is responsible for hearing. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247245)
- Cerebellar atrophy (HP:0001272): Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Abnormal corpus callosum morphology (HP:0001273): Abnormality of the corpus callosum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Internal hemorrhage (HP:0011029): The presence of hemorrhage within the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247245)
- Functional abnormality of the bladder (HP:0000009): Dysfunction of the urinary bladder. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Anosmia (HP:0000458): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Dysmetria (HP:0001310): A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Persistent bleeding after trauma (HP:0001934). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Dysdiadochokinesis (HP:0002075): A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Subarachnoid hemorrhage (HP:0002138): Hemorrhage occurring between the arachnoid mater and the pia mater. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Abnormal spinal cord morphology (HP:0002143): A structural abnormality of the spinal cord (myelon). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Unsteady gait (HP:0002317). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Abnormal cerebellar vermis morphology (HP:0002334): An anomaly of the vermis of cerebellum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Memory impairment (HP:0002354): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Abnormal cerebrospinal fluid morphology (HP:0002921): An abnormality of the cerebrospinal fluid (CSF). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Back pain (HP:0003418): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Impaired pain sensation (HP:0007328): Reduced ability to perceive painful stimuli. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Atrophy/Degeneration affecting the brainstem (HP:0007366). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Anisocoria (HP:0009916): Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Partial anosmia (HP:0010633): Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Dysgyria (HP:0032398): An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Neoplasm of the central nervous system (HP:0100006): A neoplasm of the central nervous system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Arteriovenous malformation (HP:0100026): An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Enlarged sylvian cistern (HP:0100952): An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247245)
- Seizure (HP:0001250): 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. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:247245)
- Abnormal vertebral artery morphology (HP:0030321): An anomaly of the vertebral artery, the major artery of the neck that originates from the subclavian artery and merges to form the single midline basilar artery in a complex called the vertebrobasilar system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:247245)
- Abnormality of the brachial nerve plexus (HP:0045052): Any abnormality of the brachial nerve plexus. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:247245)