| HPO |
HP:0000712 |
Emotional lability |
"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances." [PMID:23902698] |
— |
HP:0031466, HP:0100851 |
| HPO |
HP:0025357 |
Erratic myoclonus |
"A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous." [] |
Erratic may appear immediately after birth.Definition adapted from The Epilepsies: Seizures, Syndromes and Management; Chapter 5: Neonatal Seizures and Neonatal Syndromes; NCBI Book NBK2599. |
HP:0001336 |
| HPO |
HP:0000726 |
Dementia |
"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] |
— |
HP:0001268 |
| 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:0007334 |
Bilateral tonic-clonic seizure with focal onset |
"A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase." [HPO:probinson, PMID:28276060, PMID:28276064] |
The ILAE 2017 classification refers to this seizure type as a focal to bilateral tonic-clonic seizure. Previously it has been known as a secondarily generalized tonic-clonic seizure. The focal features of the seizure may be clinically manifest or alternatively, the spread in brain networks may be so rapid that no preceding focal symptom or sign is identified with demonstration of the focal onset resting on investigations. Note that not all instances of a Bilateral tonic-clonic seizure with focal onset will be a Focal motor seizure, some will be a Focal non-motor seizure, thus one can only say that there is a Focal-onset. |
HP:0002069, HP:0007359 |
| HPO |
HP:0002344 |
Progressive neurologic deterioration |
— |
— |
HP:0001268 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0011165 |
Focal sensory seizure with visual features |
"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO:jalbers] |
More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. |
HP:0011157 |
| HPO |
HP:0001399 |
Hepatic failure |
— |
— |
HP:0001410 |
| 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:0002186 |
Apraxia |
"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson] |
— |
HP:0011442, HP:0011446 |
| HPO |
HP:0000992 |
Cutaneous photosensitivity |
"An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:probinson] |
— |
HP:0011354 |
| HPO |
HP:0100318 |
Lafora bodies |
"An intraneuronal inclusion body composed of acid mucopolysaccharides." [HPO:sdoelken] |
— |
HP:0100314 |
| HPO |
HP:0000709 |
Psychosis |
"A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0002367 |
Visual hallucinations |
"Visual perceptions that are not elicited by a corresponding stimulus from the outside world." [] |
— |
HP:0000738 |
| HPO |
HP:0001425 |
Heterogeneous |
— |
— |
HP:0000005 |
| HPO |
HP:0003678 |
Rapidly progressive |
"Applies to a disease manifestation that quickly increases in scope or severity over the course of time." [] |
— |
HP:0003679 |
| HPO |
HP:0000726 |
Dementia |
"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] |
— |
HP:0001268 |
| HPO |
HP:0011165 |
Focal sensory seizure with visual features |
"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation." [HPO:jalbers] |
More complex visual hallucinations such as seeing formed images are considered a focal cognitive seizure. Focal sensory visual seizures arise in the occipital lobe. Note that there is a distinction between Visual aura and Simple partial occipital seizures. See HPO term HP:0025121 for comments. |
HP:0011157 |
| HPO |
HP:0000572 |
Visual loss |
"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken] |
— |
HP:0000505 |
| HPO |
HP:0001288 |
Gait disturbance |
"The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:probinson, PMID:27770207] |
If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. |
HP:0100022 |
| HPO |
HP:0001336 |
Myoclonus |
"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:probinson, PMID:20589866] |
Myoclonus may be synchronous (several muscle contracting simultaneously), spreading (several muscles contracting in sequence), or asynchronous (several muscles contracting with varying and unpredictable relative timing). Myoclonus is characterized by sudden unidirectional movement due to muscle contraction (positive myoclonus) or due to sudden brief muscle relaxation (negative myoclonus). Electrophysiological tests are very helpful in determining whether myoclonus is cortical, subcortical or spinal. |
HP:0004305 |
| OMIM |
OMIM:254780 |
MYOCLONIC EPILEPSY OF LAFORA |
— |
— |
— |