- Dystonia (HP:0001332): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157846)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157846)
- Decreased circulating ferritin concentration (HP:0012343): Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157846)
- Iron accumulation in brain (HP:0012675): An abnormal build up of iron (Fe) in brain tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157846)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157846)
- Hypomimic face (HP:0000338): A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- 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: Frequent (HP:0040282). (ORPHA:157846)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Dysphonia (HP:0001618): Difficulty in speaking due to a physical disorder of the mouth, tongue, throat, or vocal cords. Associated with a known physical or neurological cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Bradykinesia (HP:0002067): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Chorea (HP:0002072): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Orofacial dyskinesia (HP:0002310). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Abnormal caudate nucleus morphology (HP:0002339): Any structural abnormality of the caudate nucleus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Eye of the tiger anomaly of globus pallidus (HP:0002454): The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity of the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. The sign is thought to represent iron accumulation in the globus pallidus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Involuntary movements (HP:0004305): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Focal dystonia (HP:0004373): A type of dystonia that is localized to a specific part of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Iron accumulation in substantia nigra (HP:0012678): An anomalous build up of iron (Fe) in the substantia nigra. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- T2 hypointense thalamus (HP:0012690): A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Abnormal thalamic MRI signal intensity (HP:0012696): A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Leg dystonia (HP:0031959): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Abnormal putamen morphology (HP:0031982): Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Abnormal dentate nucleus morphology (HP:0100321): An abnormality of the dentate nucleus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157846)
- Blepharospasm (HP:0000643): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Parkinsonism (HP:0001300): Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Brisk reflexes (HP:0001348): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Weak voice (HP:0001621): Reduced intensity (volume) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Loss of voice (HP:0001686). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Caudate atrophy (HP:0002340). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Writer's cramp (HP:0002356): A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Upper limb hyperreflexia (HP:0007350): Increased intensity of the a reflex in the arm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Impaired smooth pursuit (HP:0007772): An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Palatal tremor (HP:0010530): Palatal tremor (PT) is an involuntary, rhythmic and oscillatory movement of the soft palate. PT is a rare type of tremor involving the soft palate. It can be unilateral or bilateral. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Arm dystonia (HP:0031960): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157846)
- Psychosis (HP:0000709): A condition characterized by changes in personality and thought patterns, often accompanied by hallucinations and delusional beliefs, is known as psychosis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
- Frontal lobe dementia (HP:0000727). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
- Resting tremor (HP:0002322): A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
- 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: Very rare (HP:0040284). (ORPHA:157846)
- Subcortical dementia (HP:0007123): A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
- Upgaze palsy (HP:0025331): A limitation of the ability to direct one's gaze above the horizontal meridian. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157846)
These phenotypes are associated with the disease Neuroferritinopathy (ORPHA:157846).