| HPO |
HP:0002120 |
Cerebral cortical atrophy |
"Atrophy of the cortex of the cerebrum." [HPO:probinson] |
Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. |
HP:0002059, HP:0002538 |
| HPO |
HP:0002121 |
Generalized non-motor (absence) seizure |
"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." [HPO:probinson, PMID:28276060, PMID:28276062, PMID:28276064] |
in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination; see Dialeptic seizure. |
HP:0002197, HP:0011146, HP:0033259 |
| HPO |
HP:0002123 |
Generalized myoclonic seizure |
"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." [HPO:jalbers, PMID:28276060, PMID:28276064] |
— |
HP:0032677, HP:0032794 |
| HPO |
HP:0002126 |
Polymicrogyria |
"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723] |
Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination. |
HP:0002536 |
| HPO |
HP:0002127 |
Abnormal upper motor neuron morphology |
"Any structural anomaly that affects the upper motor neuron." [] |
previous def: 'has part' some \n(quality and ('inheres in' some 'Upper motor neuron (adult human)') and ('has modifier' some abnormal)) |
HP:0002450 |
| HPO |
HP:0002131 |
Episodic ataxia |
"Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.\n" [HPO:probinson] |
— |
HP:0001251 |
| HPO |
HP:0002132 |
Porencephalic cyst |
"A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system." [HPO:probinson, PMID:9279052] |
Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. Porencephaly is often associated with various ophthalmic and neurologic signs, including visual-field defects, abnormal pupillary responses, optic nerve hypoplasia, decreased vision, nystagmus, strabismus, hemi-inattention, seizures, and mental deficiencies. |
HP:0002060 |
| HPO |
HP:0002133 |
Status epilepticus |
"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." [HPO:jalbers, ORCID:0000-0002-1735-8178, PMID:26336950, PMID:28276060] |
In 2015 the ILAE Task Force on Classification of Status Epilepticus concluded that the evidence to define time points 1 and 2 in humans was incomplete. For tonic-clonic status epilepticus t1 is defined as 5 minutes and t2 as 30 minutes. For focal status epilepticus with impaired consciousness t1 is defined as 10 minutes and t2 over 60 minutes. For absence status epilepticus t1 is defined as 10-15 minutes and t2 is unknown. |
HP:0001250 |
| HPO |
HP:0002134 |
Abnormality of the basal ganglia |
"Abnormality of the basal ganglia." [HPO:probinson] |
The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal. |
HP:0010993 |
| HPO |
HP:0002135 |
Basal ganglia calcification |
"The presence of calcium deposition affecting one or more structures of the basal ganglia." [HPO:probinson] |
— |
HP:0002134, HP:0002514 |
| HPO |
HP:0002136 |
Broad-based gait |
"An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] |
— |
HP:0001288 |
| HPO |
HP:0002138 |
Subarachnoid hemorrhage |
"Hemorrhage occurring between the arachnoid mater and the pia mater." [HPO:sdoelken] |
Bleeding into the subarachnoid space the area between the arachnoid membrane and the pia mater surrounding the brain. Subarachnoid hemorrhage may occur spontaneously, usually from a ruptured cerebral aneurysm, or may result from head injury. |
HP:0002170, HP:0012703 |
| HPO |
HP:0002139 |
Arrhinencephaly |
— |
— |
HP:0002323 |
| HPO |
HP:0002140 |
Ischemic stroke |
"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured." [PMID:32054610] |
— |
HP:0001297, HP:0002637 |
| HPO |
HP:0002141 |
Gait imbalance |
— |
— |
HP:0001288 |
| HPO |
HP:0002143 |
Abnormality of the spinal cord |
"An abnormality of the spinal cord (myelon)." [HPO:probinson] |
— |
HP:0002011 |
| HPO |
HP:0002144 |
Tethered cord |
"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] |
— |
HP:0031938 |
| HPO |
HP:0002145 |
Frontotemporal dementia |
"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders." [HPO:probinson, PMID:24966676] |
— |
HP:0000726 |
| HPO |
HP:0002148 |
Hypophosphatemia |
"An abnormally decreased phosphate concentration in the blood." [HPO:gcarletti] |
— |
HP:0100529 |
| HPO |
HP:0002149 |
Hyperuricemia |
"An abnormally high level of uric acid in the blood." [HPO:probinson] |
— |
HP:0002157, HP:0010932 |
| HPO |
HP:0002150 |
Hypercalciuria |
— |
— |
HP:0011280 |
| HPO |
HP:0002151 |
Increased serum lactate |
"Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35)." [HPO:probinson, PMID:24079682] |
— |
HP:0001941 |
| HPO |
HP:0002152 |
Hyperproteinemia |
"An increased concentration of proteins in the blood." [HPO:gcarletti] |
— |
HP:0010876 |
| HPO |
HP:0002153 |
Hyperkalemia |
"An abnormally increased potassium concentration in the blood." [HPO:probinson] |
— |
HP:0011042 |
| HPO |
HP:0002154 |
Hyperglycinemia |
"An elevated concentration of glycine in the blood." [HPO:gcarletti, PMID:16902722, PMID:4696900] |
Normal blood glycine levels are around 200-250 micromole per liter. |
HP:0010895 |