| HPO |
HP:0002323 |
Anencephaly |
"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development." [PMID:31424828] |
— |
HP:0007364 |
| HPO |
HP:0002324 |
Hydranencephaly |
"A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson] |
— |
HP:0002323 |
| HPO |
HP:0002326 |
Transient ischemic attack |
— |
— |
HP:0001297, HP:0002637 |
| HPO |
HP:0002329 |
Drowsiness |
"Excessive daytime sleepiness." [HPO:probinson] |
— |
HP:0004372 |
| HPO |
HP:0002330 |
Paroxysmal drowsiness |
"Attacks of disabling daytime drowsiness and low alertness." [HPO:probinson] |
— |
HP:0002329 |
| HPO |
HP:0002331 |
Recurrent paroxysmal headache |
"Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality." [HPO:probinson] |
— |
HP:0002315 |
| HPO |
HP:0002332 |
Lack of peer relationships |
— |
— |
HP:0000735 |
| HPO |
HP:0002333 |
Motor deterioration |
"Loss of previously present motor (i.e., movement) abilities." [HPO:probinson] |
— |
HP:0001268 |
| HPO |
HP:0002334 |
Abnormal cerebellar vermis morphology |
"An anomaly of the vermis of cerebellum." [HPO:probinson] |
The cerebellar vermis is the unpaired, median portion of the cerebellum that connects the two hemispheres. |
HP:0001317 |
| HPO |
HP:0002335 |
Agenesis of cerebellar vermis |
"Congenital absence of the vermis of cerebellum." [HPO:probinson] |
— |
HP:0006817 |
| HPO |
HP:0002339 |
Abnormal caudate nucleus morphology |
"Any structural abnormality of the caudate nucleus." [HPO:probinson] |
The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. |
HP:0010994 |
| HPO |
HP:0002340 |
Caudate atrophy |
— |
— |
HP:0007374 |
| HPO |
HP:0002341 |
Cervical cord compression |
"Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [HPO:probinson] |
— |
HP:0002176 |
| HPO |
HP:0002342 |
Intellectual disability, moderate |
"Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
— |
HP:0001249 |
| HPO |
HP:0002343 |
Normal pressure hydrocephalus |
"A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture." [eMedicine:1135286, HPO:probinson] |
Normal pressure hydrocephalus rarely occurs in patients younger than 60 years. |
HP:0000238 |
| HPO |
HP:0002344 |
Progressive neurologic deterioration |
— |
— |
HP:0001268 |
| HPO |
HP:0002345 |
Action tremor |
"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] |
Action tremor occurs with voluntary contraction of muscle. Subforms of action tremor include postural, isometric, and kinetic tremors |
HP:0001337 |
| HPO |
HP:0002346 |
Head tremor |
"An unintentional, oscillating to-and-fro muscle movement affecting head movement." [HPO:probinson] |
— |
HP:0030188 |
| HPO |
HP:0002349 |
Focal aware seizure |
"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." [HPO:probinson, ORCID:0000-0002-1735-8178, PMID:28276060, PMID:28276062, PMID:28276064] |
In the previous (1981) ILAE classification of seizure types, the term 'simple partial seizure' was used to denote a focal aware seizure. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. If awareness is preserved throughout, then the seizure is a focal aware seizure. Previously the terms simple partial was used to describe focal aware seizures. |
HP:0007359 |
| HPO |
HP:0002350 |
Cerebellar cyst |
— |
— |
HP:0002438, HP:0010576 |
| HPO |
HP:0002352 |
Leukoencephalopathy |
"This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [HPO:probinson] |
This feature can be demonstrated by magnetic resonance imaging or computer tomography. |
HP:0002060 |
| HPO |
HP:0002353 |
EEG abnormality |
"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] |
— |
HP:0030178 |
| HPO |
HP:0002354 |
Memory impairment |
"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson] |
Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. |
HP:0100543 |
| HPO |
HP:0002355 |
Difficulty walking |
"Reduced ability to walk (ambulate)." [HPO:probinson] |
— |
HP:0001288, HP:0004302 |
| HPO |
HP:0002356 |
Writer's cramp |
"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [HPO:probinson] |
— |
HP:0004373 |