| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000016 | Urinary retention | |
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| HP:0000298 | Mask-like facies | |
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| HP:0000505 | Impaired vision | |
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| HP:0000514 | Slow saccades | |
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| HP:0000605 | Supranuclear gaze palsy | |
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| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
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| HP:0000651 | Diplopia | "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] |
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| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
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| HP:0000711 | Restlessness | |
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| HP:0000712 | Emotional lability | |
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| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
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| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
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| HP:0000726 | Dementia | |
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| HP:0000736 | Short attention span | "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] |
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| HP:0000737 | Irritability | |
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| HP:0000738 | Hallucinations | |
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| HP:0000739 | Anxiety | |
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| HP:0000741 | Apathy | |
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| HP:0000746 | Delusions | |
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| HP:0000750 | Impaired language development | |
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| HP:0000751 | Personality changes | |
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| HP:0000975 | Hyperhidrosis | "An abnormally increased perspiration." [HPO:probinson] |
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| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
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| HP:0001251 | Ataxia | "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] |
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| HP:0001257 | Spasticity | "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] |
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| HP:0001260 | Dysarthria | "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." [HPO:curators] |
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| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001284 | Areflexia | |
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| HP:0001289 | Confusion | "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] |
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| HP:0001290 | Generalized hypotonia | "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
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| HP:0001298 | Encephalopathy | |
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| HP:0001300 | Parkinsonism | |
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| HP:0001310 | Dysmetria | |
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| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
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| HP:0001328 | Learning disability | |
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| HP:0001336 | Myoclonus | "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] |
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| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
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| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
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| HP:0001350 | Slurred speech | |
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| HP:0001824 | Weight loss | |
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| HP:0001945 | Fever | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002019 | Constipation | |
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| HP:0002063 | Rigidity | |
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| HP:0002066 | Gait ataxia | "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] |
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| HP:0002067 | Bradykinesia | "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)." [HPO:curators] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002072 | Chorea | "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] |
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| HP:0002073 | Progressive cerebellar ataxia | |
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| HP:0002078 | Truncal ataxia | |
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| HP:0002104 | Apnea | "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] |
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| HP:0002119 | Ventriculomegaly | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002134 | Abnormality of the basal ganglia | "Abnormality of the basal ganglia, which are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal." [HPO:curators] |
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| HP:0002171 | Gliosis | |
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| HP:0002185 | Neurofibrillary tangles | |
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| HP:0002186 | Apraxia | "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:curators] |
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| HP:0002283 | Diffuse brain atrophy | |
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| HP:0002311 | Incoordination | |
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| HP:0002312 | Clumsiness | |
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| HP:0002317 | Unsteady gait | |
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| HP:0002353 | EEG abnormalities | "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
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| HP:0002354 | Memory impairment | |
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| HP:0002359 | Frequent falls | |
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| HP:0002360 | Sleep disturbances | "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
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| HP:0002375 | Hypokinesia | |
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| HP:0002381 | Aphasia | |
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| HP:0002401 | Stroke-like episodes | |
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| HP:0002446 | Astrocytosis | |
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| HP:0002459 | Dysautonomia | |
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| HP:0002464 | Spastic dysarthria | |
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| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
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| HP:0002533 | Abnormal posturing | |
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| HP:0002549 | Deficit in phonologic short-term memory | |
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| HP:0002922 | Increased CSF protein | |
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| HP:0003043 | Abnormality of the shoulder | "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] |
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| HP:0003487 | Babinski sign | "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." [HPO:curators] |
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| HP:0003581 | Onset in adulthood | |
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| HP:0003678 | Rapidly progressive | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0005327 | Loss of facial expression | |
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| HP:0006801 | Hyperactive deep tendon reflexes | |
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| HP:0006943 | Diffuse spongiform leukoencephalopathy | |
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| HP:0006961 | Jerky head movements | |
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| HP:0006999 | Cell loss and gliosis in the basal ganglia | |
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| HP:0007009 | Central nervous system degeneration | |
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| HP:0007010 | Poor fine motor coordination | |
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| HP:0007017 | Progressive forgetfulness | |
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| HP:0007018 | Attention deficit hyperactivity disorder | "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." [HPO:curators] |
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| HP:0007076 | Extrapyramidal muscular rigidity | |
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| HP:0007158 | Progressive extrapyramidal rigidity | |
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| HP:0007183 | Hyperintense lesions in the basal ganglia on mri | |
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| HP:0007340 | Lower limb muscle weakness | "Weakness of the muscles of the legs." [HPO:curators] |
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| HP:0007686 | Abnormal pupillary function | |
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| HP:0007772 | Impaired smooth pursuit in adult patients | |
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| HP:0008003 | Jerky ocular pursuit movements | |
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| HP:0010542 | Vestibular nystagmus | "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [HPO:curators] |
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| HP:0010846 | EEG: persistent abnormal rhythmic activity | |
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| HP:0011099 | Spastic hemiplegia | "Unilateral paralysis with spasticity of the affected muscles and increased tendon reflexes." [HPO:probinson] |
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| HP:0011458 | Abdominal symptom | |
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| HP:0011463 | Childhood onset | "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth] |
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| HP:0012672 | Akinetic mutism | "Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking." [HPO:probinson] |
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| HP:0025152 | Poor visual behavior for age | "Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behvior fails to meet normal developmental milestones." [] |
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| HP:0030223 | Perseveration | "Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact." [HPO:probinson, pmid:9050113] |
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| HP:0040201 | Simultanapraxia | "A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue." [PhenoTips:CHum] |
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| HP:0040264 | Jaw pain | |
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| HP:0100256 | Senile plaques | "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] |
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| HP:0100292 | Amyloidosis of peripheral nerves | "The presence of `amyloid deposition` (MPATH:34) in the nerves of the `peripheral nervous system` (FMA:9903)." [HPO:probinson] |
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| HP:0100661 | Trigeminal neuralgia | "A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected." [HPO:sdoelken] |
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| HP:0100785 | Insomnia | |
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| HP:0100786 | Hypersomnia | |
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