| 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:0000007 | Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000474 | Excess nuchal skin | |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000556 | Retinal dystrophy | |
Show
|
| HP:0000648 | Optic atrophy | |
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:0000713 | Agitation | |
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:0000733 | Stereotyped, repetitive behaviour | |
Show
|
| HP:0000734 | Disinhibition | |
Show
|
| HP:0000737 | Irritability | |
Show
|
| HP:0000738 | Hallucinations | |
Show
|
| HP:0000739 | Anxiety | |
Show
|
| HP:0000741 | Apathy | |
Show
|
| HP:0000751 | Personality changes | |
Show
|
| HP:0000757 | Lack of insight | |
Show
|
| 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] |
Show
|
| HP:0001268 | Mental deterioration | |
Show
|
| HP:0001272 | Cerebellar atrophy | |
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:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [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:0002120 | Cerebral cortical atrophy | |
Show
|
| HP:0002123 | Myoclonic seizures | "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] |
Show
|
| HP:0002145 | Frontotemporal dementia | |
Show
|
| HP:0002171 | Gliosis | |
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: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] |
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:0002442 | Dyscalculia | |
Show
|
| HP:0002446 | Astrocytosis | |
Show
|
| HP:0002465 | Poor speech | |
Show
|
| HP:0002493 | Corticospinal tract dysfunction | |
Show
|
| HP:0002500 | Abnormality of the cerebral white matter | |
Show
|
| HP:0002529 | Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum | |
Show
|
| HP:0002591 | Polyphagia | |
Show
|
| HP:0003678 | Rapidly progressive | |
Show
|
| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
Show
|
| HP:0006956 | Dilation of lateral ventricles | |
Show
|
| HP:0006977 | Grammar-specific speech disorder | |
Show
|
| HP:0007064 | Progressive language deterioration | |
Show
|
| HP:0007112 | Mri shows frontal and temporal cortical atrophy | |
Show
|
| HP:0008762 | Repetitive compulsive 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:0030214 | Hypersexuality | "Pathological persistent sexual disinhibiting behavior, directed at oneself or to others." [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
|
