- 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: Occasional (HP:0040283). (ORPHA:157850)
- Depression (HP:0000716): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Compulsive behaviors (HP:0000722): Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- 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:157850)
- Visual field defect (HP:0001123). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Saccadic smooth pursuit interruptions (HP:0001152): An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Global developmental delay (HP:0001263): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Slurred speech (HP:0001350): Abnormal coordination of muscles involved in speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Recurrent long bone fractures (HP:0003084): An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Attention deficit hyperactivity disorder (HP:0007018): Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Pallidal degeneration (HP:0007132): Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Speech articulation difficulties (HP:0009088): Impairment in the physical production of speech sounds. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Bull's eye maculopathy (HP:0011504): Progressive maculopathy characterized by concentric regions of hyper- and hypopigmentation, with an initial foveal sparing and whose appearance is said to resemble the central target of a dart board. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Toe extensor amyotrophy (HP:0011916): Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Square-wave jerks (HP:0025402): Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Tip-toe gait (HP:0030051): An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Palilalia (HP:0031814): Palilalia is the involuntary repetition of one's own phrases, words, or syllables 2 or more times in a row. Typically, palilalic utterances decrease in volume with the increasing number of repetitions. Sometimes, the repetitions are also uttered with an accelerating speed. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Tachylalia (HP:0031937): Speech that is abnormally fast as compared to the perceived cultural norm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Dysmetric vertical saccades (HP:0032014): Inaccurate saccades (rapid movement of the eye between fixation points) in the vertical direction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Tics (HP:0100033): Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppressible and are usually associated with awareness of an urge to perform the movement. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Impulsivity (HP:0100710): Acting on the spur of the moment or on a momentary basis without consideration of outcomes; having difficulty establishing or following plans; experiencing a sense of urgency and engaging in behavior that is uninhibited, cannot be inhibited, and is uncontrolled. The possibility of repression is inconceivable. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- 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:157850)
- Psychotic mentation (HP:0001345): A pattern of thinking and perceiving characterized by a loss of contact with reality, leading to significant changes in thoughts, perceptions, and behaviors. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157850)
- Intention tremor (HP:0002080): A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:157850)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Retinal degeneration (HP:0000546): A nonspecific term denoting progressive loss of the retinal pigment epithelium (RPE) and/or neurosensory retinal cells. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Choreoathetosis (HP:0001266): Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- 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:157850)
- Abnormality of extrapyramidal motor function (HP:0002071): A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:157850)
- Abnormality of eye movement (HP:0000496): An abnormality in voluntary or involuntary eye movements or their control. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Rod-cone dystrophy (HP:0000510): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Pigmentary retinopathy (HP:0000580): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Nyctalopia (HP:0000662): Inability to see well at night or in poor light. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- 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:157850)
- Mental deterioration (HP:0001268): Loss of previously present mental abilities, generally in adults. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- 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: Frequent (HP:0040282). (ORPHA:157850)
- Acanthocytosis (HP:0001927): Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Rigidity (HP:0002063): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Limb dystonia (HP:0002451): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- 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:157850)
- Bulbar signs (HP:0002483). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Peripheral visual field loss (HP:0007994): Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Abetalipoproteinemia (HP:0008181): An absence of low-density lipoprotein cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Limb pain (HP:0009763): Chronic pain in the limbs with no clear focal etiology. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Retinal flecks (HP:0012045): Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- Craniofacial dystonia (HP:0012179): A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:157850)
- 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:157850)
- 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:157850)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Impaired convergence (HP:0000619): Reduced ability to turn the eyes inward in order to focus on a nearby object. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
- Optic atrophy (HP:0000648): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:157850)
These phenotypes are associated with the disease Pantothenate kinase-associated neurodegeneration (ORPHA:157850).