| HPO |
HP:0002357 |
Dysphasia |
— |
— |
HP:0002381 |
| HPO |
HP:0002359 |
Frequent falls |
— |
— |
HP:0002311, HP:0004302 |
| HPO |
HP:0002360 |
Sleep disturbance |
"An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] |
— |
HP:0000708 |
| HPO |
HP:0002361 |
Psychomotor deterioration |
"Loss of previously present mental and motor abilities." [HPO:probinson] |
— |
HP:0001268 |
| HPO |
HP:0002362 |
Shuffling gait |
"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground." [] |
— |
HP:0001288 |
| HPO |
HP:0002363 |
Abnormal brainstem morphology |
"An anomaly of the brainstem." [HPO:probinson] |
— |
HP:0012443 |
| HPO |
HP:0002365 |
Hypoplasia of the brainstem |
"Underdevelopment of the brainstem." [HPO:probinson] |
This finding can be demonstrated by magnetic resonance imaging. |
HP:0007362 |
| HPO |
HP:0002366 |
Abnormal lower motor neuron morphology |
"Any structural anomaly of the lower motor neuron." [HPO:probinson] |
previous def: 'has part' some \n(quality and ('inheres in' some 'Lower motor neuron (adult human)') and ('has modifier' some abnormal)) |
HP:0000759, HP:0002450 |
| HPO |
HP:0002367 |
Visual hallucinations |
"Visual perceptions that are not elicited by a corresponding stimulus from the outside world." [] |
— |
HP:0000738 |
| HPO |
HP:0002370 |
Poor coordination |
— |
— |
HP:0002311 |
| HPO |
HP:0002371 |
Loss of speech |
— |
— |
HP:0002167 |
| HPO |
HP:0002372 |
Normal interictal EEG |
"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." [] |
— |
HP:0025373 |
| HPO |
HP:0002373 |
Febrile seizure (within the age range of 3 months to 6 years) |
"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." [HPO:probinson, PMID:10353950, PMID:19125841, PMID:30078767, PMID:6779259] |
Typically febrile seizures are limited to the age range of 3 months to 6 years and not accompanied or preceded by afebrile seizures; in this case febrile seizures are not considered indicative of epilepsy. When febrile seizures occur prior to the age of 3 months, or continue beyond the 6th birthday, or when a person has both febrile seizures and afebrile generalized tonic-clonic seizures then a diagnosis of Febrile Seizures Plus (an epilepsy syndrome) may be made. |
HP:0032894 |
| HPO |
HP:0002374 |
Diminished movement |
— |
— |
HP:0100022 |
| HPO |
HP:0002375 |
Hypokinesia |
"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] |
— |
HP:0002374 |
| HPO |
HP:0002376 |
Developmental regression |
"Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] |
Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. |
HP:0012759 |
| HPO |
HP:0002377 |
obsolete Paraganglioma-related cranial nerve palsy |
— |
— |
— |
| HPO |
HP:0002378 |
Hand tremor |
"An unintentional, oscillating to-and-fro muscle movement affecting the hand." [] |
— |
HP:0030188 |
| HPO |
HP:0002380 |
Fasciculations |
"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." [HPO:curators] |
This finding can be visible clinically and can be demonstrated by electromyography (EMG). |
HP:0004305 |
| HPO |
HP:0002381 |
Aphasia |
"An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write." [] |
Aphasia is caused by brain injury. The most common cause is stroke, but aphasia can also be caused by other factors such as head trauma, brain tumors, or infections. |
HP:0002167 |
| HPO |
HP:0002383 |
Infectious encephalitis |
"A disorder of the brain caused by an infectious agent that presents with fever, headache, and an altered level of consciousness. There may also be focal or multifocal neurologic deficits, and focal or generalized seizure activity." [PMID:24365426] |
— |
HP:0011450 |
| HPO |
HP:0002384 |
Focal impaired awareness seizure |
"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." [HPO:pnrobinson, PMID:28276062, PMID:28276064, PMID:9738682] |
Awareness during a seizure is defined as the person being fully aware of themselves and their environment throughout the seizure, even if immobile. If awareness is impaired at any point during the seizure, the seizure is a focal impaired awareness seizure. The degree of loss of awareness may vary. The terms 'complex partial seizure' and 'focal dyscognitive seizure' were previously used to denote a focal impaired awareness seizure. |
HP:0007359, HP:0011146 |
| HPO |
HP:0002385 |
Paraparesis |
"Weakness or partial paralysis in the lower limbs." [HPO:probinson] |
Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. |
HP:0010551 |
| HPO |
HP:0002389 |
Cavum septum pellucidum |
"If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] |
— |
HP:0007375 |
| HPO |
HP:0002390 |
Spinal arteriovenous malformation |
— |
— |
HP:0002143, HP:0100026 |