| HPO |
HP:0001327 |
Photosensitive myoclonic seizure |
"Generalised myoclonic seizure provoked by flashing or flickering light." [PMID:28276060] |
— |
HP:0002123, HP:0020216 |
| HPO |
HP:0001328 |
Specific learning disability |
"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] |
The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. |
HP:0012759 |
| HPO |
HP:0001331 |
Absent septum pellucidum |
"Absence of the septum pellucidum." [HPO:probinson] |
TODO: Bundled term. Revise annotations and split this term. |
HP:0007375 |
| HPO |
HP:0001332 |
Dystonia |
"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:probinson] |
— |
HP:0100022 |
| HPO |
HP:0001334 |
Communicating hydrocephalus |
"A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space." [eMedicine:1135286, HPO:probinson] |
Communicating hydrocephalus may be caused by overproduction of CSF, defective absorption of CSF (the most common cause) or venous drainage insufficiency. |
HP:0000238 |
| HPO |
HP:0001335 |
Bimanual synkinesia |
"Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand." [HPO:probinson, PMID:22412265, PMID:28945198] |
Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements. Erlenmeyer first used this term in 1879. The definition of mirror movement as involuntary, synkinetic mirror reversals of an intended movement of opposite side was coined by Cohen et al. in 1991. These movements are soft, neurologic signs, seen uncommonly in clinical practice. |
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 |
| HPO |
HP:0001337 |
Tremor |
"An unintentional, oscillating to-and-fro muscle movement about a joint axis." [HPO:probinson, PMID:16344298, PMID:20589866] |
Tremor is differentiated from other involuntary movement disorders, such as chorea, athetosis, ballism, tics, and myoclonus, by its repetitive, stereotyped movements of a regular amplitude and frequency. Clonus, unlike tremor, represents a rhythmic movement, which is increased by muscle stretching. |
HP:0004305 |
| HPO |
HP:0001338 |
Partial agenesis of the corpus callosum |
"A partial failure of the development of the corpus callosum." [HPO:curators] |
— |
HP:0001274 |
| HPO |
HP:0001339 |
Lissencephaly |
"A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:28440899] |
Lissencephaly (LIS, which subsumes the terms agyria and pachygyria), together with subcortical-band heterotopia (SBH) comprises a spectrum of malformations of cortical development caused by insufficient neuronal migration. The key features of LIS are an abnormally thick cortex with reduced or absent formation of the cerebral convolutions, while SBH consists of abnormal bands of neurons beneath a normal cortex, although the cerebral gyri may be separated by unusually shallow sulci. |
HP:0002536 |
| HPO |
HP:0001340 |
Enhancement of the C-reflex |
"Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [HPO:probinson, PMID:4819909] |
— |
HP:0007377 |
| HPO |
HP:0001341 |
Olfactory lobe agenesis |
— |
— |
HP:0025057 |
| HPO |
HP:0001342 |
Cerebral hemorrhage |
"Hemorrhage into the parenchyma of the brain." [HPO:gcarletti] |
A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself. |
HP:0002170 |
| HPO |
HP:0001343 |
Kernicterus |
"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [HPO:probinson] |
— |
HP:0012443 |
| HPO |
HP:0001344 |
Absent speech |
"Complete lack of development of speech and language abilities." [HPO:probinson] |
This term should not be used in very young children. |
HP:0000750 |
| HPO |
HP:0001345 |
Psychotic mentation |
— |
— |
HP:0000709 |
| HPO |
HP:0001347 |
Hyperreflexia |
"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] |
Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. |
HP:0031826 |
| HPO |
HP:0001348 |
Brisk reflexes |
"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal." [] |
— |
HP:0001347 |
| HPO |
HP:0001349 |
Facial diplegia |
"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson] |
— |
HP:0010628 |
| HPO |
HP:0001350 |
Slurred speech |
"Abnormal coordination of muscles involved in speech." [DDD:fmunitoni] |
— |
HP:0011443 |
| HPO |
HP:0001351 |
Jerk-locked premyoclonus spikes |
"Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG." [HPO:probinson, PMID:1464676] |
— |
HP:0030178 |
| HPO |
HP:0001355 |
Megalencephaly |
"Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia)." [COST:neuromig, HPO:probinson, PMID:28658095] |
— |
HP:0002060 |
| HPO |
HP:0001357 |
Plagiocephaly |
"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436] |
Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. |
HP:0002648 |
| HPO |
HP:0001360 |
Holoprosencephaly |
"Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] |
The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. |
HP:0012443 |
| HPO |
HP:0001361 |
Nystagmus-induced head nodding |
"Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [HPO:probinson] |
— |
HP:0000639 |