Gene: SCN1A
Cytoband position: 2q24.3
OMIM: 182389
RVIS score: -1.43
RVIS percentage: 4.03
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Pallor | HP:0000980 | None | Abnormally pale skin. |
| Abnormality of the ankles | HP:0003028 | None | None |
| Neurodevelopmental delay | HP:0012758 | None | None |
| Microcephaly | HP:0000252 | HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Tonic seizure | HP:0032792 | None | A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. |
| Myoclonic seizure | HP:0032794 | None | A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Generalized non-convulsive status epilepticus without coma | HP:0032860 | None | Generalized non-convulsive status epilepticus without coma is a type of status epilepticus without prominent motor signs, which is electrographically generalized. It is a prolonged absence seizure. |
| Infection-related seizure | HP:0032892 | None | Seizure associated with a presumed or proven infection (excluding infection of the central nervous system) or inflammatory state without an alternative precipitant such as metabolic derangement, and regardless of the presence or absence of a fever. |
| Seizure precipitated by febrile infection | HP:0032894 | None | Any form of seizure occurring at the time of a fever (temperature at or above 38.0 degrees Celcius) without infection of the central nervous system, and without an alternative cause such as severe metabolic derangement, occurring at any age. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| Abnormality of the mouth | HP:0000153 | None | An abnormality of the mouth. |
| Wide mouth | HP:0000154 | HP:0002052 | Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). |
| Abnormality of the tongue | HP:0000157 | None | Any abnormality of the tongue. |
| Abnormal lip morphology | HP:0000159 | None | An abnormality of the lip. |
| Narrow mouth | HP:0000160 | HP:0009096 | Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). |
| Abnormality of upper lip | HP:0000177 | None | An abnormality of the upper lip. |
| Abnormality of limbs | HP:0040064 | None | None |
| Thin vermilion border | HP:0000233 | HP:0000213 | Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). |
| Abnormality of the philtrum | HP:0000288 | HP:0011216 | An abnormality of the philtrum. |
| Broad philtrum | HP:0000289 | None | Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. |
| Abnormality of the forehead | HP:0000290 | None | An anomaly of the forehead. |
| Abnormality of facial musculature | HP:0000301 | None | An anomaly of a muscle that is innervated by the facial nerve (the seventh cranial nerve). |
| Hypertelorism | HP:0000316 | HP:0007871 | Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). |
| Long philtrum | HP:0000343 | None | Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. |
| High forehead | HP:0000348 | HP:0000342 | An abnormally increased height of the forehead. |
| Tinnitus | HP:0000360 | None | Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. |
| Hearing abnormality | HP:0000364 | None | An abnormality of the sensory perception of sound. |
| Hearing impairment | HP:0000365 | HP:0008563 | A decreased magnitude of the sensory perception of sound. |
| Abnormality of the nose | HP:0000366 | None | An abnormality of the nose. |
| Abnormal nasal bridge morphology | HP:0000422 | HP:0000423 | Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. |
| Abnormality of the nasal alae | HP:0000429 | None | An abnormality of the Ala of nose. |
| Wide nasal bridge | HP:0000431 | HP:0200139 | Increased breadth of the nasal bridge (and with it, the nasal root). |
| Anteverted nares | HP:0000463 | HP:0000441 | Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). |
| Abnormality of the neck | HP:0000464 | None | An abnormality of the neck. |
| Limited neck range of motion | HP:0000466 | None | None |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Sudden unexpected death in epilepsy | HP:0033258 | None | Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. |
| Non-motor seizure | HP:0033259 | None | A seizure with clinical manifestation but without motor signs (other than possible behavior arrest) as its initial clinical manifestation. The electrographic onset may be generalized, focal, or unknown. |
| Abnormality of eye movement | HP:0000496 | HP:0006860 | An abnormality in voluntary or involuntary eye movements or their control. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Microphthalmia | HP:0000568 | HP:0007996 | A developmental anomaly characterized by abnormal smallness of one or both eyes. |
| Scotoma | HP:0000575 | None | A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. |
| Epileptic aura | HP:0033348 | None | An epileptic aura is a purely subjective clinical manifestation of an epileptic seizure. If an epileptic aura is not followed by loss of awareness or propagation to a bilateral tonic-clonic seizure then it is a type of focal aware non-motor seizure. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Photophobia | HP:0000613 | None | Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. |
| Blindness | HP:0000618 | HP:0007839 | Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. |
| Gaze-evoked nystagmus | HP:0000640 | None | Nystagmus made apparent by looking to the right or to the left. |
| Behavioral abnormality | HP:0000708 | HP:0002456 | An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. |
| Obsessive-compulsive behavior | HP:0000722 | None | Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). |
| Autistic behavior | HP:0000729 | None | Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. |
| Disinhibition | HP:0000734 | None | A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. |
| Impaired social interactions | HP:0000735 | None | Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. |
| Short attention span | HP:0000736 | None | Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. |
| Anxiety | HP:0000739 | None | Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. |
| Delayed speech and language development | HP:0000750 | HP:0007172 | A degree of language development that is significantly below the norm for a child of a specified age. |
| Hyperactivity | HP:0000752 | HP:0008764 | Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. |
| Abnormal peripheral nervous system morphology | HP:0000759 | HP:0003483 | A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. |
| Abnormality of the skin | HP:0000951 | HP:0007580 | An abnormality of the skin. |
| Cyanosis | HP:0000961 | None | Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Abnormal exteroceptive sensation | HP:0033747 | None | A type of somatic sensory dysfunction characterized by abnormality of superficial sensation that is mediated by receptors in skin and mucous membranes. |
| Dermatological manifestations of systemic disorders | HP:0001005 | None | None |
| Visual field defect | HP:0001123 | None | None |
| Syndactyly | HP:0001159 | HP:0001236 | Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as \"symphalangism\". |
| Intellectual disability | HP:0001249 | HP:0007180 | Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. |
| Seizure | HP:0001250 | HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Hypotonia | HP:0001252 | HP:0011398 | Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. |
| Mental deterioration | HP:0001268 | HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Hemiparesis | HP:0001269 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. |
| Motor delay | HP:0001270 | HP:0007251 | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Hypertonia | HP:0001276 | HP:0002388 | A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. |
| Gait disturbance | HP:0001288 | HP:0006953 | 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. |
| Confusion | HP:0001289 | HP:0000731 | Lack of clarity and coherence of thought, perception, understanding, or action. |
| Abnormal cranial nerve morphology | HP:0001291 | HP:0003480 | Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. |
| Encephalopathy | HP:0001298 | None | Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. |
| Parkinsonism | HP:0001300 | None | 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. |
| Tongue fasciculations | HP:0001308 | HP:0003727 | Fasciculations or fibrillation affecting the tongue muscle. |
| Abnormal nervous system electrophysiology | HP:0001311 | HP:0003129 | An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. |
| Abnormal cerebellum morphology | HP:0001317 | None | Any structural abnormality of the cerebellum. |
| Muscle weakness | HP:0001324 | HP:0009061 | Reduced strength of muscles. |
| EEG with irregular generalized spike and wave complexes | HP:0001326 | None | EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. |
| Photosensitive myoclonic seizure | HP:0001327 | None | Generalised myoclonic seizure provoked by flashing or flickering light. |
| Dystonia | HP:0001332 | HP:0002328 | 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. |
| Myoclonus | HP:0001336 | HP:0007087 | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| Tremor | HP:0001337 | HP:0001309 | An unintentional, oscillating to-and-fro muscle movement about a joint axis. |
| Absent speech | HP:0001344 | HP:0006798 | Complete lack of development of speech and language abilities. |
| Hyperreflexia | HP:0001347 | HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| Brisk reflexes | HP:0001348 | None | Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. |
| Abnormal joint morphology | HP:0001367 | None | An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. |
| Limitation of joint mobility | HP:0001376 | HP:0003101 | A reduction in the freedom of movement of one or more joints. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Abnormal hair morphology | HP:0001595 | None | An abnormality of the hair. |
| Sudden death | HP:0001699 | None | Rapid and unexpected death. |
| Abnormality of movement | HP:0100022 | HP:0001294 | An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. |
| Vestibular dysfunction | HP:0001751 | HP:0007921 | An abnormality of the functioning of the vestibular apparatus. |
| Abnormal foot morphology | HP:0001760 | HP:0010611 | An abnormality of the skeleton of foot. |
| Cognitive impairment | HP:0100543 | HP:0007211 | Abnormal cognition with deficits in thinking, reasoning, or remembering. |
| Abnormality of forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Chorea | HP:0002072 | HP:0002397 | Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. |
| Generalized non-motor (absence) seizure | HP:0002121 | HP:0011148 | A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. |
| Generalized myoclonic seizure | HP:0002123 | HP:0007294 | A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. |
| Status epilepticus | HP:0002133 | None | Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. |
| Cerebral edema | HP:0002181 | None | Abnormal accumulation of fluid in the brain. |
| Abnormality of lower limb joint | HP:0100491 | HP:0100239 | None |
| Intellectual disability, profound | HP:0002187 | None | Profound mental retardation is defined as an intelligence quotient (IQ) below 20. |
| Generalized-onset seizure | HP:0002197 | HP:0007339 | A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. |
| Incoordination | HP:0002311 | HP:0002276 | None |
| Headache | HP:0002315 | HP:0001354 | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Unsteady gait | HP:0002317 | None | None |
| Vertigo | HP:0002321 | None | An abnormal sensation of spinning while the body is actually stationary. |
| Lack of peer relationships | HP:0002332 | None | None |
| Intellectual disability, moderate | HP:0002342 | HP:0007303 | Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. |
| Action tremor | HP:0002345 | None | A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. |
| EEG abnormality | HP:0002353 | HP:0006841 | Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. |
| Dysphasia | HP:0002357 | None | None |
| Abnormal brainstem morphology | HP:0002363 | None | An anomaly of the brainstem. |
| Febrile seizure (within the age range of 3 months to 6 years) | HP:0002373 | HP:0007102 | A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. |
| Premature skin wrinkling | HP:0100678 | HP:0200074 | The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. |
| Developmental regression | HP:0002376 | HP:0007247 | Loss of developmental skills, as manifested by loss of developmental milestones. |
| Fasciculations | HP:0002380 | HP:0007092 | 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. |
| Aphasia | HP:0002381 | None | An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. |
| Focal impaired awareness seizure | HP:0002384 | HP:0002278 | Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. |
| Tibial torsion | HP:0100694 | None | Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. |
| EEG with polyspike wave complexes | HP:0002392 | None | The presence of complexes of repetitive spikes and waves in EEG. |
| Cogwheel rigidity | HP:0002396 | None | A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). |
| Abnormal arachnoid mater morphology | HP:0100700 | None | An abnormality of the Arachnoid mater. |
| Arachnoid cyst | HP:0100702 | None | An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. |
| Cerebral visual impairment | HP:0100704 | HP:0000595 | A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. |
| Impulsivity | HP:0100710 | None | Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. |
| Abnormality of salivation | HP:0100755 | None | None |
| Distal muscle weakness | HP:0002460 | HP:0009008 | Reduced strength of the musculature of the distal extremities. |
| Language impairment | HP:0002463 | None | Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. |
| Hyperkinetic movements | HP:0002487 | None | Motor hyperactivity with excessive movement of muscles of the body as a whole. |
| Falls | HP:0002527 | None | None |
| Abnormal cerebral cortex morphology | HP:0002538 | None | Any structural abnormality of the cerebral cortex. |
| Cortical dysplasia | HP:0002539 | HP:0007139 | The presence of developmental dysplasia of the cerebral cortex. |
| Inability to walk | HP:0002540 | None | Incapability to ambulate. |
| Abnormal emotion/affect behavior | HP:0100851 | None | An abnormality of emotional behaviour. |
| Abnormality of the upper limb | HP:0002817 | HP:0003838 | An abnormality of the arm. |
| Abnormality of the cerebrospinal fluid | HP:0002921 | None | An abnormality of the cerebrospinal fluid (CSF). |
| Increased CSF protein | HP:0002922 | None | Increased concentration of protein in the cerebrospinal fluid. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Abnormality of the calf | HP:0002981 | None | An abnormality of the calf, i.e. of the posterior part of the lower leg. |
| Abnormality of tibia morphology | HP:0002992 | None | Abnormality of the tibia (shinbone). |
| Abnormality of the musculature | HP:0003011 | HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Limited knee extension | HP:0003066 | None | Reduced ability to extend (straighten) the knee joint. |
| Paresthesia | HP:0003401 | HP:0002082 | Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. |
| Cyanotic episode | HP:0200048 | None | None |
| Somatic sensory dysfunction | HP:0003474 | HP:0100964 | An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. |
| Epileptic encephalopathy | HP:0200134 | None | A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. |
| CSF lymphocytic pleiocytosis | HP:0200149 | None | An increased lymphocyte count in the cerebrospinal fluid. |
| Infantile onset | HP:0003593 | HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| Onset | HP:0003674 | HP:0011007 | The age group in which disease manifestations appear. |
| Excessive salivation | HP:0003781 | None | Excessive production of saliva. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Phenotypic variability | HP:0003812 | HP:0003822 | A variability of phenotypic features. |
| Reflex seizure | HP:0020207 | None | Seizures precipitated by exogenous stimuli. |
| Variable expressivity | HP:0003828 | HP:0003825 | A variable severity of phenotypic features. |
| Visually-induced seizure | HP:0020216 | None | Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. |
| Motor seizure | HP:0020219 | None | A motor seizure is a type of seizure that is characterized at onset by involvement of the skeletal musculature. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Clonic seizure | HP:0020221 | None | A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Reduced consciousness/confusion | HP:0004372 | None | None |
| Hemiplegia/hemiparesis | HP:0004374 | None | Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. |
| Talipes valgus | HP:0004684 | None | Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. |
| Abnormal nasal morphology | HP:0005105 | None | None |
| Abnormality of the nares | HP:0005288 | None | Abnormality of the nostril. |
| Disturbance of facial expression | HP:0005324 | None | An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. |
| Abnormal facial expression | HP:0005346 | None | None |
| Secondary microcephaly | HP:0005484 | HP:0005499 | Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. |
| Limitation of neck motion | HP:0005986 | None | None |
| Focal hemiclonic seizure | HP:0006813 | None | A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. |
| Abnormal aggressive, impulsive or violent behavior | HP:0006919 | None | None |
| Progressive gait ataxia | HP:0007240 | HP:0002142 | A type of gait ataxia displaying progression of clinical severity. |
| Abnormal pyramidal sign | HP:0007256 | HP:0007347 | Functional neurological abnormalities related to dysfunction of the pyramidal tract. |
| Abnormal lower limb bone morphology | HP:0040069 | HP:0040066 | None |
| Abnormal morphology of the limbic system | HP:0007343 | None | Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. |
| Focal-onset seizure | HP:0007359 | HP:0040168 | A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Atrophy/Degeneration affecting the cerebrum | HP:0007369 | None | The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. |
| Decreased head circumference | HP:0040195 | None | An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. |
| Prematurely aged appearance | HP:0007495 | HP:0001599 | None |
| Reduced visual acuity | HP:0007663 | HP:0008008 | None |
| Gaze-evoked horizontal nystagmus | HP:0007979 | HP:0007639 | Horizontal nystagmus made apparent by looking to the right or to the left. |
| Aplasia/Hypoplasia affecting the eye | HP:0008056 | None | None |
| Pes valgus | HP:0008081 | None | An outward deviation of the foot at the talocalcaneal or subtalar joint. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormal hippocampus morphology | HP:0025100 | None | Any structural anomaly of the hippocampus, |
| Dysgenesis of the hippocampus | HP:0025101 | None | Structural abnormality of the hippocampus related to defective development. |
| Constitutional symptom | HP:0025142 | None | A symptom or manifestation indicating a systemic or general effect of a disease and that may affect the general well-being or status of an individual. |
| Obsessive-compulsive trait | HP:0008770 | HP:0008761 | The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. |
| Bilateral tonic-clonic seizure with generalized onset | HP:0025190 | None | A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. |
| Feeding difficulties in infancy | HP:0008872 | HP:0002568 | Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. |
| Muscular hypotonia of the trunk | HP:0008936 | HP:0002320 | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. |
| Infantile muscular hypotonia | HP:0008947 | HP:0010572 | Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. |
| Distal upper limb muscle weakness | HP:0008959 | None | Reduced strength of the distal musculature of the arms. |
| Abnormal CSF protein level | HP:0025456 | None | Any deviation from the normal range of a protein concentration in the cerebrospinal fluid. |
| Weakness due to upper motor neuron dysfunction | HP:0010549 | None | 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. Paralysis due to lesions of the principle motor tracts is related to a lesion in the corticospinal, corticobulbar or brainstem descending (subcorticospinal) neurons. |
| Abnormal hair pattern | HP:0010720 | None | An abnormality of the distribution of hair growth. |
| Generalized tonic seizure | HP:0010818 | HP:0002184 | A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. |
| Atonic seizure | HP:0010819 | HP:0002124 | Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. |
| Impaired temperature sensation | HP:0010829 | HP:0100772 | A reduced ability to discriminate between different temperatures. |
| Abnormality of pain sensation | HP:0010832 | None | Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. |
| Spontaneous pain sensation | HP:0010833 | None | Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. |
| Dissociated sensory loss | HP:0010835 | None | A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. |
| Multifocal epileptiform discharges | HP:0010841 | None | An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). |
| EEG with generalized slow activity | HP:0010845 | None | Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| EEG with spike-wave complexes (>3.5 Hz) | HP:0010849 | HP:0007261 | The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). |
| EEG with spike-wave complexes | HP:0010850 | None | Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| Intellectual disability, severe | HP:0010864 | HP:0007196 | Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. |
| Abnormality of the external nose | HP:0010938 | None | An abnormality of the external nose. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Epileptic spasm | HP:0011097 | None | A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages |
| Abnormality of skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| Abnormality of skin adnexa morphology | HP:0011138 | None | An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands. |
| Dialeptic seizure | HP:0011146 | None | A dialeptic seizure is a type of seizure characterised predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. |
| Myoclonic absence seizure | HP:0011150 | None | Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. |
| Generalized clonic seizure | HP:0011169 | None | Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. |
| Generalized myoclonic-atonic seizure | HP:0011170 | None | A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. |
| Complex febrile seizure | HP:0011172 | None | A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. |
| Interictal epileptiform activity | HP:0011182 | None | Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. |
| EEG with focal epileptiform discharges | HP:0011185 | HP:0010840 | EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). |
| EEG with focal sharp slow waves | HP:0011195 | None | EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. |
| EEG with focal sharp waves | HP:0011196 | None | EEG with focal sharp transient waves of a duration between 80 and 200 msec. |
| EEG with focal spike waves | HP:0011197 | None | EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. |
| EEG with generalized epileptiform discharges | HP:0011198 | HP:0010842 | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| EEG with generalized sharp slow waves | HP:0011199 | None | EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. |
| Prominent forehead | HP:0011220 | HP:0200061 | Forward prominence of the entire forehead, due to protrusion of the frontal bone. |
| Abnormality of hindbrain morphology | HP:0011282 | None | An abnormality of the hindbrain, also known as the rhombencephalon. |
| Abnormal metencephalon morphology | HP:0011283 | None | An abnormality of the metencephalon. The metencephalon is the part of the hindbrain that consists of the pons and the cerebellum. |
| Abnormal digit morphology | HP:0011297 | None | A morphological abnormality of a digit, i.e., of a finger or toe. |
| Abnormality of mouth size | HP:0011337 | None | None |
| Abnormality of upper lip vermillion | HP:0011339 | None | An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. |
| Generalized abnormality of skin | HP:0011354 | None | An abnormality of the skin that is not localized to any one particular region. |
| Acquired abnormal hair pattern | HP:0011360 | None | An abnormality of the distribution of hair growth that is acquired during the course of life. |
| Functional abnormality of the inner ear | HP:0011389 | None | An abnormality of the function of the inner ear. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Abnormality of coordination | HP:0011443 | None | None |
| Abnormality of higher mental function | HP:0011446 | None | Cognitive, psychiatric or memory anomaly. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Childhood onset | HP:0011463 | HP:0003617 | Onset of disease at the age of between 1 and 5 years. |
| Facial tics | HP:0011468 | None | Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. |
| Gastrostomy tube feeding in infancy | HP:0011471 | None | Feeding problem necessitating gastrostomy tube feeding. |
| Abnormality of binocular vision | HP:0011514 | None | An abnormality of binocular vision, that is of the ability to synthesize the visual inputs from both eyes to a single image with perception of depth. |
| Abnormality of joint mobility | HP:0011729 | None | An abnormality in the range and ease of motion of joints across their normal range. |
| Abnormality of facial soft tissue | HP:0011799 | None | None |
| Abnormal oral cavity morphology | HP:0000163 | None | Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. |
| Abnormality of lower lip | HP:0000178 | None | An abnormality of the lower lip. |
| Nystagmus | HP:0000639 | None | Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Abnormal skeletal muscle morphology | HP:0011805 | HP:0003735 | A structural abnormality of a skeletal muscle. |
| Abnormality of skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormality of musculoskeletal physiology | HP:0011843 | None | An abnormality of the function of the skeletal system. |
| Abnormal appendicular skeleton morphology | HP:0011844 | None | An abnormality of the appendicular skeletal system, consisting of the of the limbs, shoulder and pelvic girdles. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Pendular nystagmus | HP:0012043 | None | Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. |
| Abnormal social behavior | HP:0012433 | None | An abnormality of actions or reactions of a person taking place during interactions with others. |
| Abnormality of brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| Thick vermilion border | HP:0012471 | None | Increased width of the skin of vermilion border region of upper lip. |
| Metamorphopsia | HP:0012508 | None | A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. |
| Abnormal involuntary eye movements | HP:0012547 | None | Anomalous movements of the eyes that occur without the subject wanting them to happen. |
| Abnormal nervous system physiology | HP:0012638 | None | A functional anomaly of the nervous system. |
| Abnormal nervous system morphology | HP:0012639 | None | A structural anomaly of the nervous system. |
| Neurodevelopmental abnormality | HP:0012759 | None | A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. |
| Epilepsia partialis continua | HP:0012847 | None | Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). |
| Abnormality of central nervous system electrophysiology | HP:0030178 | None | None |
| Weakness of facial musculature | HP:0030319 | None | Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). |
| Photopsia | HP:0030786 | None | Perceived flashes of light. |
| Abnormal tongue physiology | HP:0030810 | None | Any functional anomaly of the tongue. |
| Nuchal rigidity | HP:0031179 | None | Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. |
| Impairment in personality functioning | HP:0031466 | None | A maladaptive personality trait characterized by moderate or greater impairment in personality (self /interpersonal) functioning. |
| Status epilepticus without prominent motor symptoms | HP:0031475 | None | There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. |
| Abnormal ear physiology | HP:0031704 | None | Any functional anomaly of the ear. |
| Clinical course | HP:0031797 | None | The course a disease typically takes from its onset, progression in time, and eventual resolution or death of the affected individual. |
| Abnormal oral physiology | HP:0031815 | None | A functional anomaly of the mouth (which is also known as the oral cavity). |
| Abnormal oral morphology | HP:0031816 | None | Any structural anomaly of the mouth, which is also known as the oral cavity. |
| Abnormal reflex | HP:0031826 | None | Any anomaly of a reflex, i.e., of an automatic response mediated by the nervous system (a reflex does not need the intervention of conscious thought to occur). |
| Decreased vigilance | HP:0032044 | None | A reduction in the ability to maintain sustained attention characterized by reduced alertness. |
| Alien limb phenomenon | HP:0032506 | None | Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. |
| Status epilepticus with prominent motor symptoms | HP:0032658 | None | Status epilepticus with prominent motor signs during the prolonged seizure. |
| Focal motor status epilepticus | HP:0032663 | None | Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Thin upper lip vermilion | HP:0000219 | HP:0200086 | Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Brain imaging abnormality | HP:0410263 | None | An anomaly of metabolism or structure of the brain identified by imaging. |
| Horizontal nystagmus | HP:0000666 | None | Nystagmus consisting of horizontal to-and-fro eye movements. |
| Tube feeding | HP:0033454 | None | Feeding problem necessitating food and nutrient delivery via a tube. |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. |
| Abnormality of the nervous system | HP:0000707 | HP:0006987 | An abnormality of the nervous system. |
| Abnormality of the lower limb | HP:0002814 | None | An abnormality of the leg. |
| Cranial nerve compression | HP:0001293 | None | None |
| Global developmental delay | HP:0001263 | HP:0007342 | 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. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0004367 | None |
| Abnormal facial shape | HP:0001999 | HP:0005124 | An abnormal morphology (form) of the face or its components. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0007319 | A structural abnormality of the central nervous system. |
| Cerebral atrophy | HP:0002059 | HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Rigidity | HP:0002063 | None | 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. |
| Gait ataxia | HP:0002066 | HP:0002379 | A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. |
| Bradykinesia | HP:0002067 | None | 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). |
| Bilateral tonic-clonic seizure | HP:0002069 | HP:0007252 | A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. |
| Migraine | HP:0002076 | HP:0007194 | Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. |
| Neurological speech impairment | HP:0002167 | None | None |
| Amaurosis fugax | HP:0100576 | None | A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. |
| Poor motor coordination | HP:0002275 | None | None |
| Global brain atrophy | HP:0002283 | HP:0002462 | Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. |
| Frontal balding | HP:0002292 | None | Absence of hair in the anterior midline and/or parietal areas. |
| Hemiplegia | HP:0002301 | None | Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. |
| Drooling | HP:0002307 | None | Habitual flow of saliva out of the mouth. |
| Abnormality of globe size | HP:0100887 | HP:0010725 | An abnormality in the size of the ocular globe (eyeball). |
| Abnormality of globe location | HP:0100886 | None | An abnormality in the placement of the ocular globe (eyeball). |
| Scoliosis | HP:0002650 | HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Abnormality of limb bone morphology | HP:0002813 | None | Any abnormality of bones of the arms or legs. |
| Abnormality of the knee | HP:0002815 | None | An abnormality of the knee joint or surrounding structures. |
| First dorsal interossei muscle weakness | HP:0003392 | None | None |
| Generalized cerebral atrophy/hypoplasia | HP:0007058 | None | Generalized atrophy or hypoplasia of the cerebrum. |
| Photosensitive tonic-clonic seizure | HP:0007207 | None | Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. |
| Facial paralysis | HP:0007209 | HP:0007358 | Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). |
| Abnormality of limb bone | HP:0040068 | None | None |
| Hypoplastic hippocampus | HP:0025517 | None | Underdevelopment of the hippocampus. |
| Thick nasal alae | HP:0009928 | None | Increase in bulk of the ala nasi. |
| Limitation of knee mobility | HP:0010501 | HP:0005192 | An abnormal limitation of knee joint mobility. |
| Spasmus nutans | HP:0010533 | None | The combination of pendular nystagmus, head nodding, and torticollis. |
| Abnormal meningeal morphology | HP:0010651 | None | An abnormality of the Meninges, including any abnormality of the Dura mater, the Arachnoid mater, and the Pia mater. |
| Abnormality of the curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Focal motor seizure | HP:0011153 | None | A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. |
| Focal sensory seizure | HP:0011157 | None | A focal sensory seizure is a type seizure beginning with a subjective sensation. |
| EEG with abnormally slow frequencies | HP:0011203 | None | EEG with abnormally slow frequencies. |
| CSF pleocytosis | HP:0012229 | None | An increased white blood cell count in the cerebrospinal fluid. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| Abnormal eye morphology | HP:0012372 | HP:0012374 | A structural anomaly of the globe of the eye, or bulbus oculi. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Non-convulsive status epilepticus without coma | HP:0032671 | None | A type of status epilepticus without prominent motor symptoms in the absence of coma. |
| Generalized-onset motor seizure | HP:0032677 | None | A generalized motor seizure is a type of generalized-onset seizure with predominantly motor (involving musculature) signs. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. |
| Focal non-motor seizure | HP:0032679 | None | A type of focal-onset seizure characterized by non-motor signs or symptoms (or behaviour arrest) as its initial semiological manifestation. |
| Pes planus | HP:0001763 | None | A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. |
| Abnormality of extrapyramidal motor function | HP:0002071 | HP:0007113 | 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). |
| Thick lower lip vermilion | HP:0000179 | HP:0000170 | Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). |
| Abnormality of the musculoskeletal system | HP:0033127 | None | An anomaly of the musculoskeletal system, which consists of the bones of the skeleton, muscles, cartilage, tendons, ligaments, joints, and other connective tissue. The musculoskeletal system supports the weight of the body, maintains body position and produces movements of the body or of parts of the body. |
| Diplopia | HP:0000651 | None | Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. |
| Aggressive behavior | HP:0000718 | None | Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. |
| Stereotypy | HP:0000733 | HP:0008759 | A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. |
| Coma | HP:0001259 | None | Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. |
| Dysarthria | HP:0001260 | HP:0002327 | 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. |
| Focal clonic seizure | HP:0002266 | None | A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| Focal aware seizure | HP:0002349 | None | A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. |
| Upper motor neuron dysfunction | HP:0002493 | None | A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. |
| Abnormal fear/anxiety-related behavior | HP:0100852 | HP:0001296 | An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. |
| Paralysis | HP:0003470 | None | 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. |
| Poor fine motor coordination | HP:0007010 | None | An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. |
| Attention deficit hyperactivity disorder | HP:0007018 | HP:0006973 | 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. |
| Abnormal axial skeleton morphology | HP:0009121 | None | An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum. |
| Vertical nystagmus | HP:0010544 | None | Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. |
| Muscle fibrillation | HP:0010546 | None | Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. |
| Atypical absence status epilepticus | HP:0011151 | None | Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. |
| Simple febrile seizure | HP:0011171 | None | A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. |
| Seesaw nystagmus | HP:0012044 | None | Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. |
| Personality disorder | HP:0012075 | None | An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001463 | 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. |
| Visual impairment | HP:0000505 | HP:0007983 | 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. |
| Ataxia | HP:0001251 | HP:0007157 | Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). |
| Choreoathetosis | HP:0001266 | HP:0007337 | Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). |
| Cerebellar atrophy | HP:0001272 | HP:0007203 | Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. |
| Migraine with aura | HP:0002077 | None | A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. |
| Postural instability | HP:0002172 | None | A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. |
| Atypical absence seizure | HP:0007270 | None | An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. |
| Interictal EEG abnormality | HP:0025373 | None | Interictal refers to a period of time between epileptic seizures. Electroencephalographic (EEG) patterns are important in the differential diagnosis of epilepsy, and the EEG is almost always abnormal during a seizure. Some persons with seizures may show EEG abnormalities between seizures, while others do not. In some cases, multiple interictal EEGs must be recorded before an abnormality is observed. In most cases the electrographic pattern of seizure onset is completely different from the activity recorded during interictal discharge. |