Gene: KCNQ2
Cytoband position: 20q13.33
OMIM: 602235
RVIS score: -0.67
RVIS percentage: 15.86
| Phenotype name | HPO ID | Alternative HPO ID | Phenotype description |
|---|---|---|---|
| Global developmental delay | HP:0001263 | HP:0000754,HP:0001255,HP:0001277,HP:0001292,HP:0002433,HP:0002473,HP:0002532,HP:0006793,HP:0006867,HP:0006885,HP:0006935,HP:0007005,HP:0007094,HP:0007106,HP:0007174,HP:0007224,HP:0007228,HP:0007342,HP:0025356 | 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. |
| Generalized myoclonic seizure | HP:0002123 | HP:0006869,HP:0006902,HP:0007075,HP:0007202,HP:0007284,HP:0007294 | A generalized myoclonic seizure is a type of generalized motor seizure characterized 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. |
| Intellectual disability | HP:0001249 | HP:0000730,HP:0001267,HP:0001286,HP:0002122,HP:0002192,HP:0002316,HP:0002382,HP:0002386,HP:0002402,HP:0002458,HP:0002482,HP:0002499,HP:0002543,HP:0003767,HP:0006833,HP:0006877,HP:0007154,HP:0007176,HP:0007180 | Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70. |
| Abnormal homeostasis | HP:0012337 | None | An anomaly in the processes involved in the maintenance of an internal equilibrium. |
| 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. |
| Autosomal dominant inheritance | HP:0000006 | HP:0001415,HP:0001447,HP:0001448,HP:0001451,HP:0001452,HP:0001455,HP:0001456,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. |
| Focal emotional seizure | HP:0025613 | None | Seizures presenting with an emotion or the appearance of having an emotion as an early prominent feature, such as fear, spontaneous joy or euphoria, laughing (gelastic), or crying, (dacrystic). These emotional seizures may occur with or without objective clinical signs of a seizure evident to the observer. |
| 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. |
| 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. |
| Ataxia | HP:0001251 | HP:0001253,HP:0002513,HP:0007050,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). |
| Myoclonic seizure | HP:0032794 | None | A myoclonic seizure is a type of motor seizure characterized 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. |
| 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. |
| 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. |
| 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. |
| Spastic tetraparesis | HP:0001285 | HP:0002393 | Spastic weakness affecting all four limbs. |
| Motor delay | HP:0001270 | HP:0001307,HP:0002130,HP:0006788,HP:0006826,HP:0006909,HP:0006950,HP:0006968,HP:0007219,HP:0007251 | A type of Developmental delay characterized by a delay in acquiring motor skills. |
| Abnormal vestibular function | HP:0001751 | HP:0006917,HP:0007921 | An abnormality of the functioning of the vestibular apparatus. |
| Delayed myelination | HP:0012448 | None | Delayed myelination. |
| Abnormality of coordination | HP:0011443 | None | None |
| 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. |
| Abnormal basal ganglia morphology | HP:0002134 | HP:0006952,HP:0007257 | Abnormality of the basal ganglia. |
| Abnormal aortic morphology | HP:0001679 | HP:0030963 | An abnormality of the aorta. |
| Abnormal morphology of the great vessels | HP:0030962 | None | A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. |
| Cognitive impairment | HP:0100543 | HP:0002128,HP:0002129,HP:0002302,HP:0002337,HP:0002441,HP:0006972,HP:0006998,HP:0007211 | Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. |
| Abnormality of the nervous system | HP:0000707 | HP:0001333,HP:0006987 | An abnormality of the nervous system. |
| Seizure | HP:0001250 | HP:0001275,HP:0001303,HP:0002125,HP:0002182,HP:0002279,HP:0002306,HP:0002348,HP:0002391,HP:0002417,HP:0002430,HP:0002431,HP:0002432,HP:0002434,HP:0002437,HP:0002466,HP:0002479,HP:0002794,HP:0006997,HP:0010520 | A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. |
| Edema | HP:0000969 | HP:0000990 | An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. |
| Pallor | HP:0000980 | None | Abnormally pale skin. |
| Cyanosis | HP:0000961 | None | Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. |
| Abnormality of the skin | HP:0000951 | HP:0001478,HP:0001479,HP:0005591,HP:0006736,HP:0007415,HP:0007580 | An abnormality of the skin. |
| Abnormal skull morphology | HP:0000929 | None | An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. |
| Abnormality of the vertebral column | HP:0000925 | None | Any abnormality of the vertebral column. |
| Abnormality of the skeletal system | HP:0000924 | None | An abnormality of the skeletal system. |
| Abnormal blood vessel morphology | HP:0033353 | None | Any structural anomaly of a blood vessel (artery, arteriole, capillary, venule, or vein). |
| Cerebral atrophy | HP:0002059 | HP:0002422,HP:0006890 | Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. |
| Mental deterioration | HP:0001268 | HP:0002303,HP:0006822,HP:0007155,HP:0007253,HP:0007264,HP:0007298 | Loss of previously present mental abilities, generally in adults. |
| Hyperreflexia | HP:0001347 | HP:0001282,HP:0006820,HP:0007184,HP:0007318 | Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. |
| 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. |
| Developmental regression | HP:0002376 | HP:0002471,HP:0002489,HP:0006797,HP:0006828,HP:0006854,HP:0007037,HP:0007242,HP:0007247 | Loss of developmental skills, as manifested by loss of developmental milestones. |
| EEG abnormality | HP:0002353 | HP:0001346,HP:0002429,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. |
| Episodic ataxia | HP:0002131 | HP:0006862,HP:0007152,HP:0007214 | Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. |
| Clinical modifier | HP:0012823 | HP:0000004 | This subontology is designed to provide terms to characterize and specify the phenotypic abnormalities defined in the Phenotypic abnormality subontology, with respect to severity, laterality, age of onset, and other aspects. |
| Puberty and gonadal disorders | HP:0008373 | HP:0000827 | None |
| Precocious puberty | HP:0000826 | None | The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. |
| Abnormality of the endocrine system | HP:0000818 | None | An abnormality of the endocrine system. |
| Abnormal muscle tone | HP:0003808 | None | None |
| Thin corpus callosum | HP:0033725 | None | An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). |
| 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. |
| Neurodevelopmental delay | HP:0012758 | None | Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. |
| Profound global developmental delay | HP:0012736 | None | A profound delay in the achievement of motor or mental milestones in the domains of development of a child. |
| Functional abnormality of the gastrointestinal tract | HP:0012719 | None | Abnormal functionality of the gastrointestinal tract. |
| Abnormality of the musculature | HP:0003011 | HP:0003197,HP:0003708,HP:0040290 | Abnormality originating in one or more muscles, i.e., of the set of muscles of body. |
| Abnormal cardiovascular system morphology | HP:0030680 | HP:0001632,HP:0002564,HP:0002565 | Any structural anomaly of the heart and blood vessels. |
| Onset | HP:0003674 | HP:0003588,HP:0003590,HP:0003597,HP:0003602,HP:0003603,HP:0003618,HP:0003626,HP:0003628,HP:0003630,HP:0003663,HP:0003664,HP:0003668,HP:0011007 | The age group in which disease manifestations appear. |
| Infantile onset | HP:0003593 | HP:0003576,HP:0003579,HP:0003591,HP:0003594,HP:0003599,HP:0003600,HP:0003629,HP:0003631,HP:0003667,HP:0003672,HP:0010573 | Onset of signs or symptoms of disease between 28 days to one year of life. |
| 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. |
| Neonatal onset | HP:0003623 | HP:0003622 | Onset of signs or symptoms of disease within the first 28 days of life. |
| Abnormality of the ear | HP:0000598 | None | An abnormality of the ear. |
| Visual impairment | HP:0000505 | HP:0000516,HP:0000566,HP:0007758,HP:0007860,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. |
| Abnormality of vision | HP:0000504 | None | Abnormality of eyesight (visual perception). |
| Abnormal brain morphology | HP:0012443 | None | A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. |
| Abnormal myelination | HP:0012447 | None | Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. |
| Brain atrophy | HP:0012444 | None | Partial or complete wasting (loss) of brain tissue that was once present. |
| Abnormality of the eye | HP:0000478 | None | Any abnormality of the eye, including location, spacing, and intraocular abnormalities. |
| Scoliosis | HP:0002650 | HP:0002770,HP:0003303,HP:0003317,HP:0003415 | The presence of an abnormal lateral curvature of the spine. |
| Abnormal eye physiology | HP:0012373 | None | A functional anomaly of the eye. |
| Abnormality of the face | HP:0000271 | None | An abnormality of the face. |
| Headache | HP:0002315 | HP:0000266,HP:0001354 | Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. |
| Microcephaly | HP:0000252 | HP:0001366,HP:0005485,HP:0005489,HP:0005497 | Head circumference below 2 standard deviations below the mean for age and gender. |
| Abnormality of skull size | HP:0000240 | None | Any abnormality of the size of the skull. |
| Abnormality of the head | HP:0000234 | None | An abnormality of the head. |
| Tetraplegia/tetraparesis | HP:0030182 | None | Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. |
| Abnormality of central nervous system electrophysiology | HP:0030178 | None | None |
| Abnormal nervous system electrophysiology | HP:0001311 | HP:0002531,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. |
| Abnormality of the cardiovascular system | HP:0001626 | HP:0003116 | Any abnormality of the cardiovascular system. |
| 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. |
| Abnormality of head or neck | HP:0000152 | None | An abnormality of head and neck. |
| 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. |
| Phenotypic abnormality | HP:0000118 | None | A phenotypic abnormality. |
| Limb myoclonus | HP:0045084 | None | None |
| Mode of inheritance | HP:0000005 | HP:0001425,HP:0001453,HP:0001461,HP:0010985 | The pattern in which a particular genetic trait or disorder is passed from one generation to the next. |
| All | HP:0000001 | None | None |
| Abnormal cerebral subcortex morphology | HP:0010993 | None | An abnormality of the cerebral subcortex. |
| Abnormality of metabolism/homeostasis | HP:0001939 | HP:0002146,HP:0004355,HP:0004367 | None |
| Aortopulmonary collateral arteries | HP:0031834 | None | Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. |
| 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). |
| Generalized tonic seizure | HP:0010818 | HP:0002184 | A generalized tonic seizure is a type of generalized motor seizure characterized 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. |
| Focal emotional seizure with laughing | HP:0010821 | None | Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. |
| EEG with generalized epileptiform discharges | HP:0011198 | HP:0010842 | EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. |
| 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). |
| 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 burst suppression | HP:0010851 | None | The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. |
| Abnormal forebrain morphology | HP:0100547 | None | An abnormality of the forebrain, which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle. |
| Decreased body weight | HP:0004325 | HP:0001823,HP:0001826 | Abnormally low body weight. |
| 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. |
| Erythema | HP:0010783 | None | Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Abnormality of body weight | HP:0004323 | HP:0010718 | An abnormal increase or decrease of weight or an abnormal distribution of mass in the body. |
| Gastroesophageal reflux | HP:0002020 | HP:0004793 | A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. |
| Abnormal curvature of the vertebral column | HP:0010674 | None | The presence of an abnormal curvature of the vertebral column. |
| Increased theta frequency activity in EEG | HP:0031535 | None | Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. |
| Abnormality of the integument | HP:0001574 | None | An abnormality of the integument, which consists of the skin and the superficial fascia. |
| Failure to thrive | HP:0001508 | HP:0001535,HP:0008853,HP:0008878,HP:0008916 | Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. |
| Growth abnormality | HP:0001507 | HP:0008904 | None |
| Continuous spike and waves during slow sleep | HP:0031491 | None | Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. |
| Staring gaze | HP:0025401 | None | An abnormality in which the eyes are held permanently wide open. |
| 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. |
| 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. |
| Atrophy/Degeneration affecting the central nervous system | HP:0007367 | None | None |
| Aplasia/Hypoplasia of the cerebrum | HP:0007364 | None | None |
| Appendicular spasticity | HP:0034353 | None | A type of spasticity that affects one or more limbs (arms or legs). |
| Mendelian inheritance | HP:0034345 | None | A mode of inheritance of diseases whose pathophysiology can be traced back to deleterious variants in a single gene. The inheritance patterns of these single-gene (monogenic) diseases are often referred to as Mendelian in honor of Gregor Mendel. |
| Facial erythema | HP:0001041 | HP:0001068 | Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. |
| Abnormal globus pallidus morphology | HP:0002453 | HP:0007040 | An abnormality of the globus pallidus. |
| Hypoplasia of the corpus callosum | HP:0002079 | HP:0002319,HP:0007026 | Underdevelopment of the corpus callosum. |
| 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. |
| Aplasia/Hypoplasia of the corpus callosum | HP:0007370 | HP:0007003,HP:0007060,HP:0007061,HP:0007137 | Absence or underdevelopment of the corpus callosum. |
| Focal-onset seizure | HP:0007359 | HP:0002358,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. |
| Slurred speech | HP:0001350 | None | Abnormal coordination of muscles involved in speech. |
| Generalized-onset seizure | HP:0002197 | HP:0002409,HP:0007114,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. |
| Bilateral tonic-clonic seizure with focal onset | HP:0007334 | HP:0002602 | A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. |
| Myoclonus | HP:0001336 | HP:0002535,HP:0007087 | Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. |
| 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. |
| Abnormal corpus callosum morphology | HP:0001273 | HP:0007323 | Abnormality of the corpus callosum. |
| Aplasia/Hypoplasia involving the central nervous system | HP:0002977 | HP:0001323 | Absence or underdevelopment of tissue in the central nervous system. |
| Morphological central nervous system abnormality | HP:0002011 | HP:0002405,HP:0002413,HP:0002481,HP:0007319 | A structural abnormality of the central nervous system. |
| Involuntary movements | HP:0004305 | HP:0007120 | Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. |
| Functional motor deficit | HP:0004302 | None | None |
| Bilateral tonic-clonic seizure | HP:0002069 | HP:0001306,HP:0002407,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. |
| Early onset of sexual maturation | HP:0100000 | None | An early onset of puberty, in this case early does not refer to precocious. |
| Abnormal esophagus physiology | HP:0025270 | None | Any physiological abnormality of the esophagus. |
| 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. |
| Spasticity | HP:0001257 | None | A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. |
| 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. |
| 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. |
| Generalized non-motor (absence) seizure | HP:0002121 | HP:0007143,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 characterized 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. |
| Febrile seizure (within the age range of 3 months to 6 years) | HP:0002373 | HP:0002175,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. |
| Peripheral cyanosis | HP:0034033 | None | Bluish discoloration of the distal extremities (hands, fingertips, toes), and can sometimes involve circumoral and periorbital areas. Mucous membranes are generally not involved. |
| Facial cyanosis | HP:0034031 | None | Bluish discoloration of one or more regions of the face. |
| Abnormality of digestive system physiology | HP:0025032 | None | A functional anomaly of the digestive system. |
| Abnormality of the digestive system | HP:0025031 | None | None |
| Abnormal vascular morphology | HP:0025015 | None | None |
| Poor gross motor coordination | HP:0007015 | None | An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. |
| Dermatological manifestations of systemic disorders | HP:0001005 | None | None |
| Pediatric onset | HP:0410280 | None | Onset of disease manifestations before adulthood, defined here as before the age of 16 years, but excluding neonatal or congenital onset. |
| Brain imaging abnormality | HP:0410263 | None | An anomaly of metabolism or structure of the brain identified by imaging. |
| Focal head nodding automatism seizure | HP:0032906 | None | A type of focal automatism seizure characterized by involuntary head nodding at onset. |
| Feeding difficulties | HP:0011968 | None | Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. |
| Apnea | HP:0002104 | HP:0005936,HP:0005958 | Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. |
| Abnormal respiratory system physiology | HP:0002795 | HP:0005952 | None |
| Axial hypotonia | HP:0008936 | HP:0002320 | Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. |
| Focal automatism seizure | HP:0032898 | None | A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. |
| 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. |
| 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. |
| Neonatal electro-clinical seizure with behavior arrest | HP:0032823 | None | Neonatal electro-clinical non-motor seizure with behavior arrest is a type of neonatal electro-clinical seizure characterized by an arrest of activities, freezing, immobilization, with or without apnea and/or other autonomic manifestations. |
| Neonatal electro-clinical non-motor seizure | HP:0032812 | None | None |
| Neonatal electro-clinical seizure | HP:0032809 | None | Neonatal electro-clinical seizure is an electrographic event occurring in neonatal period and coupled with a clinical manifestation. |
| Neonatal seizure with electrographic correlate | HP:0032808 | None | Neonatal seizure is a seizure type that occurs in neonatal period and is characterized by an electrographic event with sudden, repetitive, evolving stereotyped waveforms with a beginning and an end. This event can be associated or not with a clinical manifestation. |
| Neonatal seizure | HP:0032807 | None | A seizure occurring within the neonatal period (28 days beyond the full term date). |
| Abnormal skeletal morphology | HP:0011842 | None | An abnormality of the form, structure, or size of the skeletal system. |
| Abnormal muscle physiology | HP:0011804 | None | A functional abnormality of a skeletal muscle. |
| Tonic seizure | HP:0032792 | None | A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. |
| Abnormal pattern of respiration | HP:0002793 | None | An anomaly of the rhythm or depth of breathing. |
| Abnormal cerebral white matter morphology | HP:0002500 | HP:0200100 | An abnormality of the cerebral white matter. |
| Focal non-motor seizure | HP:0032679 | None | A type of focal-onset seizure characterized by non-motor signs or symptoms (or behavior arrest) as its initial semiological manifestation. |
| Eyelid myoclonia seizure | HP:0032678 | None | An eyelid myoclonia seizure is a type of generalized myoclonic seizure which may or may not be associated with loss of awareness. |
| 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. |
| Abnormal systemic arterial morphology | HP:0011004 | HP:0002620,HP:0005114 | An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. |
| Circumoral cyanosis | HP:0032556 | None | Persistent blue color of the skin that surrounds the mouth. |
| Abnormality of the vasculature | HP:0002597 | None | An abnormality of the vasculature. |
| Inability to walk | HP:0002540 | None | Incapability to ambulate. |
| Hypsarrhythmia | HP:0002521 | None | Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). |
| Facial tics | HP:0011468 | None | Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. |
| 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. |
| Abdominal symptom | HP:0011458 | None | A subjective manifestation of disease localized to the abdomen. |
| Abnormality of mental function | HP:0011446 | None | Cognitive, psychiatric, or memory anomaly. |
| Abnormal central motor function | HP:0011442 | None | An anomaly of the control or production of movement in the central nervous system. |
| Myokymia | HP:0002411 | None | Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. |
| Abnormal facial expression | HP:0005346 | None | None |
| Functional abnormality of the inner ear | HP:0011389 | None | An abnormality of the function of the inner ear. |
| Generalized abnormality of skin | HP:0011354 | None | An abnormality of the skin that is not localized to any one particular region. |
| 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. |
| Normal interictal EEG | HP:0002372 | None | Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. |
| Psychomotor deterioration | HP:0002361 | None | Loss of previously present mental and motor abilities. |
| Tetraparesis | HP:0002273 | HP:0002338 | Weakness of all four limbs. |
| 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. |
| Vertigo | HP:0002321 | None | An abnormal sensation of spinning while the body is actually stationary. |
| Vascular skin abnormality | HP:0011276 | None | None |
| Clonic seizure | HP:0020221 | None | A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. |
| 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. |
| Poor motor coordination | HP:0002275 | None | None |
| 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. |
| EEG with focal spikes | HP:0011193 | None | EEG with focal sharp transient waves of a duration less than 80 msec. |
| Focal EEG discharges with secondary generalization | HP:0011188 | None | Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. |
| 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. |
| Focal autonomic seizure | HP:0011154 | HP:0011164 | An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. |
| Focal tonic seizure | HP:0011167 | None | A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. |
| Generalized clonic seizure | HP:0011169 | None | Generalized clonic seizure is a type of generalized motor seizure characterized by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. |
| Focal motor seizure | HP:0011153 | None | A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. |
| Cerebral edema | HP:0002181 | None | Abnormal accumulation of fluid in the brain. |
| Dialeptic seizure | HP:0011146 | None | A dialeptic seizure is a type of seizure characterized predominantly by reduced responsiveness or awareness and with subsequent at least partial amnesia of the event. |
| Clonus | HP:0002169 | None | A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. |
| Abnormal skin morphology | HP:0011121 | None | Any morphological abnormality of the skin. |
| 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. |
| 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 the respiratory system | HP:0002086 | None | An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. |
| Abnormal cerebral morphology | HP:0002060 | None | Any structural abnormality of the telencephalon, which is also known as the cerebrum. |
| Abnormality of fluid regulation | HP:0011032 | None | An abnormality of the regulation of body fluids. |
| Abnormality of the gastrointestinal tract | HP:0011024 | None | An abnormality of the gastrointestinal tract. |
| Nausea | HP:0002018 | None | A sensation of unease in the stomach together with an urge to vomit. |
| Nausea and vomiting | HP:0002017 | None | Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. |