| HPO |
HP:0002521 |
Hypsarrhythmia |
"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)." [HPO:curators] |
— |
HP:0011198 |
| HPO |
HP:0002522 |
Areflexia of lower limbs |
"Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson] |
— |
HP:0001284, HP:0002814 |
| HPO |
HP:0002524 |
Cataplexy |
"A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [HPO:probinson, PMID:21931493, PMID:22249574] |
Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. |
HP:0011442 |
| HPO |
HP:0002526 |
Deficit in nonword repetition |
"Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [HPO:probinson] |
— |
HP:0002167 |
| HPO |
HP:0002527 |
Falls |
— |
— |
HP:0001288 |
| HPO |
HP:0002528 |
Granulovacuolar degeneration |
"Electron-dense granules within double membrane-bound cytoplasmic vacuoles." [PMID:22073234] |
Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. |
HP:0002060, HP:0002180 |
| HPO |
HP:0002529 |
Neuronal loss in central nervous system |
— |
This finding can be demonstrated by neuropathology. |
HP:0007367 |
| HPO |
HP:0002530 |
Axial dystonia |
"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [HPO:probinson] |
— |
HP:0001332 |
| HPO |
HP:0002533 |
Abnormal posturing |
"Involuntary flexion or extension of the arms and legs." [HPO:probinson] |
— |
HP:0100022 |
| HPO |
HP:0002536 |
Abnormal cortical gyration |
"An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] |
— |
HP:0002269, HP:0002538 |
| HPO |
HP:0002538 |
Abnormal cerebral cortex morphology |
"Any structural abnormality of the cerebral cortex." [HPO:probinson, PMID:31373394] |
The cerebral cortex constitutes more than half the volume of the human brain and is presumed to be responsible for the neuronal computations underlying complex phenomena, such as perception, thought, language, attention, episodic memory and voluntary movement. |
HP:0002060 |
| HPO |
HP:0002539 |
Cortical dysplasia |
"The presence of developmental dysplasia of the cerebral cortex." [HPO:probinson] |
— |
HP:0002538 |
| HPO |
HP:0002540 |
Inability to walk |
"Incapability to ambulate." [HPO:probinson] |
— |
HP:0001288 |
| HPO |
HP:0002542 |
Olivopontocerebellar atrophy |
"Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] |
— |
HP:0001317 |
| HPO |
HP:0002544 |
Retrocollis |
"A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [HPO:probinson, PMID:17917462] |
Retrocollis is a spasmodic form of torticollis in which the head is drawn back. |
HP:0000473 |
| HPO |
HP:0002545 |
Patchy demyelination of subcortical white matter |
"Patchy loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] |
— |
HP:0007305 |
| HPO |
HP:0002546 |
Incomprehensible speech |
— |
— |
HP:0002167 |
| HPO |
HP:0002548 |
Parkinsonism with favorable response to dopaminergic medication |
"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication." [] |
— |
HP:0001300 |
| HPO |
HP:0002549 |
Deficit in phonologic short-term memory |
"Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory" [PMID:19646677] |
— |
HP:0033687 |
| HPO |
HP:0002550 |
Absent facial hair |
"Absence of facial hair." [HPO:probinson] |
— |
HP:0002298 |
| HPO |
HP:0002552 |
Trichodysplasia |
"Developmental dysplasia of the hair." [HPO:probinson] |
— |
HP:0001595 |
| HPO |
HP:0002553 |
Highly arched eyebrow |
"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [PMID:19125427] |
Most eyebrows have some arch with downturning medially and laterally. |
HP:0000534 |
| HPO |
HP:0002555 |
Absent pubic hair |
"Absence of pubic hair." [HPO:probinson] |
— |
HP:0002298, HP:0100133 |
| HPO |
HP:0002557 |
Hypoplastic nipples |
"Underdevelopment of the nipple." [HPO:probinson] |
— |
HP:0006709 |
| HPO |
HP:0002558 |
Supernumerary nipple |
"Presence of more than two nipples." [HPO:probinson] |
— |
HP:0004404 |