| 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: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] |
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| HP:0000020 | Urinary incontinence | "Loss of the ability to control the urinary bladder leading to involuntary urination." [HPO:sdoelken] |
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| HP:0000217 | Xerostomia | "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] |
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| HP:0000365 | Hearing loss | |
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| HP:0000474 | Excess nuchal skin | |
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| HP:0000511 | Vertical 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:0000657 | Oculomotor apraxia | |
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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:0000710 | Hyperorality | |
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| HP:0000711 | Restlessness | |
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| HP:0000712 | Emotional lability | |
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| HP:0000713 | Agitation | |
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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:0000719 | Inappropriate behavior | |
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| HP:0000723 | Restrictive behaviour, interests, and activities | |
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| HP:0000733 | Stereotyped, repetitive behaviour | |
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| HP:0000734 | Disinhibition | |
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| HP:0000737 | Irritability | |
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| HP:0000739 | Anxiety | |
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| HP:0000741 | Apathy | |
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| HP:0000751 | Personality changes | |
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| HP:0000757 | Lack of insight | |
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| HP:0000821 | Hypothyroidism | |
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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:0001265 | Hyporeflexia | |
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| HP:0001268 | Mental deterioration | |
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| HP:0001272 | Cerebellar atrophy | |
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| HP:0001283 | Bulbar palsy | "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] |
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| 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] |
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| HP:0001310 | Dysmetria | |
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| HP:0001332 | Dystonia | "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." [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:0001425 | Heterogeneous | |
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| HP:0001638 | Cardiomyopathy | |
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| HP:0002015 | Dysphagia | "Difficulty in swallowing." [HPO:curators] |
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| HP:0002017 | Nausea and vomiting | |
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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: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] |
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| HP:0002070 | Limb ataxia | |
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| HP:0002071 | Extrapyramidal signs | |
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| HP:0002075 | Dysdiadochokinesis | "An inability to perform rapidly alternating movements, such as rhythmically tapping the fingers on the knee, generally related to a cerebellar lesion." [HPO:curators] |
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| HP:0002094 | Dyspnea | |
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| HP:0002120 | Cerebral cortical atrophy | |
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| HP:0002145 | Frontotemporal dementia | |
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| HP:0002180 | Neurodegeneration | |
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| HP:0002273 | Tetraparesis | |
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| HP:0002300 | Mutism | |
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| HP:0002354 | Memory impairment | |
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| HP:0002357 | Dysphasia | |
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| HP:0002366 | Lower motor neuron signs | |
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| HP:0002371 | Loss of speech | |
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| 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] |
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| HP:0002385 | Paraparesis | |
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| HP:0002423 | Long-tract signs | |
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| HP:0002442 | Dyscalculia | |
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| HP:0002446 | Astrocytosis | |
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| HP:0002463 | Language impairment | |
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| HP:0002465 | Poor speech | |
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| HP:0002493 | Corticospinal tract dysfunction | |
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| HP:0002500 | Abnormality of the cerebral white matter | |
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| HP:0002512 | Brain stem compression | |
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| HP:0002644 | Abnormality of the pelvis | "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] |
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| HP:0002653 | Bone pain | |
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| HP:0002659 | Increased susceptibility to fractures | "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] |
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| HP:0002669 | Osteogenic sarcoma | |
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| HP:0002797 | Osteolysis | |
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| HP:0002878 | Early respiratory failure | |
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| HP:0002953 | Vertebral compression fractures | |
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| HP:0003080 | Hydroxyprolinuria | |
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| HP:0003084 | Fractures of the long bones | "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators] |
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| HP:0003155 | Elevated alkaline phosphatase | "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] |
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| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
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| HP:0003236 | Elevated serum creatine phosphokinase | |
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| HP:0003324 | Generalized muscle weakness | "Generalized weakness or decreased strength of the muscles." [HPO:curators] |
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| HP:0003376 | Steppage gait | "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:curators] |
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| HP:0003394 | Muscle cramps | |
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| HP:0003438 | Absent ankle reflexes | |
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| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
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| HP:0003470 | Paralysis | "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] |
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| HP:0003547 | Shoulder girdle muscle weakness | "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] |
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| HP:0003557 | Increased variability in muscle fiber size | "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] |
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| HP:0003676 | Progressive disorder | |
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| HP:0003691 | Scapular winging | |
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| HP:0003724 | Shoulder girdle muscle atrophy | "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] |
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| HP:0003805 | Rimmed vacuoles | |
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| HP:0003812 | Phenotypic variability | |
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| HP:0003828 | Variable expressivity | |
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| HP:0005686 | Patchy osteosclerosis | "Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays." [HPO:curators] |
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| HP:0005945 | Laryngeal obstruction | |
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| HP:0006251 | Limited wrist extension | |
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| HP:0006467 | Limited shoulder movement | "A limitation of the range of movement of the shoulder joint." [HPO:curators] |
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| HP:0006480 | Premature loss of teeth | |
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| HP:0006824 | Cranial nerve paralysis | |
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| HP:0006892 | Cerebral atrophy, frontotemporal, progressive | |
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| HP:0007210 | Lower limb hypotrophy | |
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| HP:0007256 | Mild pyramidal signs | |
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| HP:0007354 | Amyotrophic lateral sclerosis | |
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| HP:0008180 | Mildly elevated creatine phosphokinase | |
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| HP:0008513 | Bilateral conductive deafness | |
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| HP:0008963 | Tibialis weakness and atrophy | "Muscle weakness and atrophy affecting the tibialis anterior muscle." [HPO:curators] |
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| HP:0009027 | Foot dorsiflexor weakness | |
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| HP:0009077 | Weakness of long finger extensor muscles | |
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| 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] |
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| 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] |
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| HP:0010529 | Echolalia | "The tendency to repeat vocalizations made by another person." [HPO:curators] |
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| HP:0010628 | Facial muscle weakness | "A weakness of any or all of the muscles of the face of any etiology." [HPO:curators] |
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| HP:0011204 | EEG with continuous slow activity | "EEG showing diffuse slowing without interruption." [HPO:jalbers] |
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| HP:0012378 | Fatigue | "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson] |
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| HP:0012515 | Hip flexor weakness | "Reduced ability to flex the femur, that is, to pull the knee upward." [ORCID:0000-0001-5208-3432] |
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| HP:0012531 | Pain | "An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage." [ORCID:0000-0001-5208-3432] |
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| HP:0012548 | Skeletal muscle fatty infiltration | "Deposition of fat within muscles." [HPO:probinson] |
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| 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] |
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| 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] |
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| HP:0030007 | EMG: Positive sharp waves | "These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform." [] |
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| HP:0030195 | Fatigable weakness of swallowing muscles | "A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [pmid:17986328, UK:rheller] |
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| HP:0030196 | Fatigable weakness of respiratory muscles | "A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [UNCL:mbertoli] |
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| HP:0030212 | Collectionism | "Excessive or pathological tendency to save and collect possessions." [] |
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| HP:0030213 | Emotional blunting | "Lack of emotional reactivity and empathy for situations or persons, sometime also for family members." [ICM:PCaroppo] |
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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:0040047 | Abnormality of the right hemidiaphragm | |
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| HP:0100284 | EMG: myotonic discharges | |
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| HP:0100299 | Muscle fiber inclusion bodies | |
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