| 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] |
Show
|
| HP:0000474 | Excess nuchal skin | |
Show
|
| HP:0000597 | Ophthalmoparesis | "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] |
Show
|
| HP:0000605 | Supranuclear gaze palsy | |
Show
|
| HP:0000613 | Photophobia | "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] |
Show
|
| HP:0000622 | Blurred vision | |
Show
|
| 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] |
Show
|
| HP:0000658 | Eyelid apraxia | |
Show
|
| HP:0000709 | Psychosis | "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
Show
|
| HP:0000710 | Hyperorality | |
Show
|
| HP:0000711 | Restlessness | |
Show
|
| HP:0000716 | Depression | "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] |
Show
|
| 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] |
Show
|
| HP:0000719 | Inappropriate behavior | |
Show
|
| HP:0000723 | Restrictive behaviour, interests, and activities | |
Show
|
| HP:0000726 | Dementia | |
Show
|
| HP:0000727 | Frontal lobe dementia | |
Show
|
| HP:0000733 | Stereotyped, repetitive behaviour | |
Show
|
| HP:0000734 | Disinhibition | |
Show
|
| HP:0000737 | Irritability | |
Show
|
| HP:0000739 | Anxiety | |
Show
|
| HP:0000741 | Apathy | |
Show
|
| HP:0000743 | Frontal release signs | |
Show
|
| HP:0000748 | Inappropriate laughter | |
Show
|
| HP:0000751 | Personality changes | |
Show
|
| HP:0000757 | Lack of insight | |
Show
|
| 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] |
Show
|
| HP:0001288 | Gait disturbance | "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] |
Show
|
| HP:0001300 | Parkinsonism | |
Show
|
| HP:0001337 | Tremor | "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001425 | Heterogeneous | |
Show
|
| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
Show
|
| HP:0002062 | Abnormality of the pyramidal tracts | "An abnormality of the pyramidal system of motor neurons, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts." [HPO:curators] |
Show
|
| HP:0002063 | Rigidity | |
Show
|
| 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] |
Show
|
| HP:0002069 | Generalized tonic-clonic seizures | "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure." [HPO:curators] |
Show
|
| HP:0002071 | Extrapyramidal signs | |
Show
|
| HP:0002141 | Gait imbalance | |
Show
|
| HP:0002145 | Frontotemporal dementia | |
Show
|
| HP:0002171 | Gliosis | |
Show
|
| HP:0002185 | Neurofibrillary tangles | |
Show
|
| 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] |
Show
|
| HP:0002300 | Mutism | |
Show
|
| HP:0002304 | Akinesia | |
Show
|
| HP:0002354 | Memory impairment | |
Show
|
| HP:0002357 | Dysphasia | |
Show
|
| HP:0002366 | Lower motor neuron signs | |
Show
|
| HP:0002371 | Loss of speech | |
Show
|
| HP:0002380 | Fasciculations | "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] |
Show
|
| HP:0002381 | Aphasia | |
Show
|
| HP:0002427 | Motor aphasia | |
Show
|
| HP:0002439 | Frontolimbic dementia | |
Show
|
| HP:0002442 | Dyscalculia | |
Show
|
| HP:0002446 | Astrocytosis | |
Show
|
| HP:0002451 | Limb dystonia | |
Show
|
| HP:0002463 | Language impairment | |
Show
|
| HP:0002465 | Poor speech | |
Show
|
| HP:0002476 | Primitive reflexes (palmomental, snout, glabellar) | |
Show
|
| HP:0002493 | Corticospinal tract dysfunction | |
Show
|
| HP:0002500 | Abnormality of the cerebral white matter | |
Show
|
| HP:0002527 | Falls | |
Show
|
| HP:0002528 | Granulovacuolar degeneration | |
Show
|
| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
Show
|
| HP:0002530 | Axial dystonia | |
Show
|
| HP:0002544 | Retrocollis | |
Show
|
| HP:0002591 | Polyphagia | |
Show
|
| HP:0002751 | Kyphoscoliosis | |
Show
|
| HP:0003581 | Onset in adulthood | |
Show
|
| HP:0003745 | Sporadic | |
Show
|
| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
Show
|
| HP:0006977 | Grammar-specific speech disorder | |
Show
|
| HP:0007112 | Mri shows frontal and temporal cortical atrophy | |
Show
|
| HP:0007256 | Mild pyramidal signs | |
Show
|
| HP:0007354 | Amyotrophic lateral sclerosis | |
Show
|
| HP:0008768 | Inappropriate sexual behavior | |
Show
|
| HP:0010522 | Dyslexia | "A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent)." [HPO:curators] |
Show
|
| HP:0010523 | Alexia | "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:curators] |
Show
|
| HP:0010526 | Dysgraphia | "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators] |
Show
|
| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
Show
|
| HP:0011204 | EEG with continuous slow activity | "EEG showing diffuse slowing without interruption." [HPO:jalbers] |
Show
|
| HP:0012444 | Brain atrophy | "Partial or complete wasting (loss) of brain tissue that was once present." [HPO:probinson] |
Show
|
| HP:0012658 | Abnormal brain FDG positron emission tomography | "An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity." [HPO:probinson] |
Show
|
| HP:0012671 | Abulia | "Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency." [HPO:probinson, pmid:16030444, UToronto:HTrang] |
Show
|
| HP:0030212 | Collectionism | "Excessive or pathological tendency to save and collect possessions." [] |
Show
|
| HP:0030213 | Emotional blunting | "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo] |
Show
|
| HP:0030222 | Visual agnosia | "Difficulty in recognizing objects by visual input in absence of sensorial visual impairment." [ICM:PCaroppo] |
Show
|
| 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] |
Show
|
| HP:0030391 | Spoken Word Recognition Deficit | "Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus." [HPO:probinson] |
Show
|
| HP:0030784 | Anomia | "An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name." [] {comment="HPO:probinson"} |
Show
|
| HP:0100256 | Senile plaques | "Senile plaques are extracellular deposits of amyloid in the gray matter of the brain." [HPO:sdoelken] |
Show
|
| HP:0500014 | Abnormal test result | "Abnormal finding in a diagnostic test or assay." [] |
Show
|
