Human Phenotype Ontology

The Human Phenotype Ontology table provides information on the disease phenotypes associated with a particular gene.

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.