| 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:0032792 |
Tonic seizure |
"A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening." [PMID:11580774] |
This term describes the initial semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding tonic seizures when the onset is not known. The tonic contraction of muscles can result in a tremor, not to be confused with a clonic phase. This term does not apply to seizures with a tonic phase followed a clonic phase, see bilateral tonic-clonic seizure. |
HP:0020219 |
| HPO |
HP:0000348 |
High forehead |
"An abnormally increased height of the forehead." [HPO:probinson] |
— |
HP:0000290 |
| HPO |
HP:0002069 |
Bilateral tonic-clonic seizure |
"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase." [HPO:pnrobinson, PMID:28276060] |
A tonic-clonic seizure may be generalised from onset or progress from a focal seizure to a bilateral tonic clonic seizure. This term describes the observed semiology of the seizure without specifying whether the onset is focal or generalized. Thus it can be used for coding bilateral tonic-clonic seizures when the onset is not known. This form of seizure was formerly commonly called grand mal seizure. |
HP:0001250 |
| HPO |
HP:0001266 |
Choreoathetosis |
"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:probinson] |
— |
HP:0002072 |
| HPO |
HP:0011471 |
Gastrostomy tube feeding in infancy |
"Feeding problem necessitating gastrostomy tube feeding." [DDD:ncarter] |
This is an extremely severe form of feeding problems in infancy. |
HP:0008872, HP:0033454 |
| HPO |
HP:0003593 |
Infantile onset |
"Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] |
Onset of signs or symptoms of disease within the first 12 months of life. |
HP:0410280 |
| HPO |
HP:0011150 |
Myoclonic absence seizure |
"Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017." [HPO:ihelbig, PMID:28276060, PMID:28276062, PMID:28276064, PMID:9637609] |
— |
HP:0002121 |
| HPO |
HP:0008936 |
Muscular hypotonia of the trunk |
"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0010849 |
EEG with spike-wave complexes (>3.5 Hz) |
"The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] |
— |
HP:0010850 |
| HPO |
HP:0100702 |
Arachnoid cyst |
"An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid." [HPO:sdoelken] |
Arachnoid cysts can be found on the brain, or on the spine. Intracranial arachnoid cysts usually occur adjacent to the arachnoidal cistern. Spinal arachnoid cysts may be extradural, intradural, or perineural. |
HP:0100700 |
| 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:0031475 |
Status epilepticus without prominent motor symptoms |
"There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma." [ORCID:0000-0002-1735-8178, PMID:17805245, PMID:22528274, PMID:26336950] |
— |
HP:0002133 |
| 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:0002487 |
Hyperkinetic movements |
"Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] |
— |
HP:0100022 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| OMIM |
OMIM:609634 |
MIGRAINE, FAMILIAL HEMIPLEGIC, 3; FHM3 |
— |
— |
— |
| OMIM |
OMIM:604403 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 |
— |
— |
— |
| OMIM |
OMIM:604233 |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 |
— |
— |
— |
| OMIM |
OMIM:607208 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 6; EIEE6 |
— |
— |
— |