| HPO |
HP:0002187 |
Intellectual disability, profound |
"Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] |
Persons with profound mental retardation generally require constant care. |
HP:0001249 |
| HPO |
HP:0002188 |
Delayed CNS myelination |
"Delayed myelination in the central nervous system." [HPO:probinson] |
A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. |
HP:0011400, HP:0012448 |
| HPO |
HP:0002189 |
obsolete Excessive daytime sleepiness |
— |
— |
— |
| HPO |
HP:0002190 |
Choroid plexus cyst |
"A cyst occurring within the choroid plexus within a cerebral ventricle." [HPO:probinson] |
Choroid plexus cysts can be observed on prenatal ultrasound examinations and are associated with a weakly increased risk for fetal chromosome abnormalities such as trisomy 18. |
HP:0007376 |
| HPO |
HP:0002191 |
Progressive spasticity |
"Spasticity that increases in degree with time." [HPO:probinson] |
— |
HP:0001257 |
| HPO |
HP:0002193 |
Pseudobulbar behavioral symptoms |
"Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] |
— |
HP:0000708, HP:0002200 |
| HPO |
HP:0002194 |
Delayed gross motor development |
"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [HPO:probinson] |
— |
HP:0001270 |
| HPO |
HP:0002195 |
Dysgenesis of the cerebellar vermis |
"Defective development of the vermis of cerebellum." [HPO:probinson] |
Note that the term cerebellar dysgenesis is generally used to refer to a morphological abnormality of the cerebellum that is of presumed developmental (rather than acquired) origin,and is often diagnosed by means of magnetic resonance tomography. |
HP:0002334 |
| HPO |
HP:0002196 |
Myelopathy |
— |
— |
HP:0002143 |
| HPO |
HP:0002197 |
Generalized-onset seizure |
"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex." [HPO:probinson, PMID:20196795, PMID:23739099, PMID:28276060, PMID:28276064, PMID:6790275] |
in 2017 the ILAE Commission for Classification and Terminology recommended classifying a seizure as having focal or generalized onset only when there is a high degree of confidence (over 80%, arbitrarily chosen to parallel the usual allowable beta error) in the accuracy of this determination. Classifying a seizure as having apparently generalised onset does not rule out a focal-onset obscured by limitations of our current clinical methods. |
HP:0001250 |
| HPO |
HP:0002198 |
Dilated fourth ventricle |
"An abnormal dilatation of the fourth cerebral ventricle." [HPO:probinson] |
— |
HP:0002119, HP:0010950 |
| HPO |
HP:0002199 |
Hypocalcemic seizures |
— |
— |
HP:0002901, HP:0011145 |
| HPO |
HP:0002200 |
Pseudobulbar signs |
"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] |
— |
HP:0012638 |
| HPO |
HP:0002202 |
Pleural effusion |
"The presence of an excessive amount of fluid in the pleural cavity." [HPO:probinson] |
— |
HP:0000969, HP:0002103 |
| HPO |
HP:0002203 |
Respiratory paralysis |
"Inability to move the muscles of respiration." [HPO:probinson] |
— |
HP:0003470, HP:0004347 |
| HPO |
HP:0002204 |
Pulmonary embolism |
"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery." [] |
— |
HP:0030875 |
| HPO |
HP:0002205 |
Recurrent respiratory infections |
"An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] |
— |
HP:0002719, HP:0011947 |
| HPO |
HP:0002206 |
Pulmonary fibrosis |
"Replacement of normal lung tissues by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson] |
Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. |
HP:0006530 |
| HPO |
HP:0002207 |
Diffuse reticular or finely nodular infiltrations |
— |
— |
HP:0002113 |
| HPO |
HP:0002208 |
Coarse hair |
"Hair shafts are rough in texture." [HPO:probinson] |
— |
HP:0010719 |
| HPO |
HP:0002209 |
Sparse scalp hair |
"Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825] |
Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. |
HP:0008070, HP:0100037 |
| HPO |
HP:0002211 |
White forelock |
"A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson] |
— |
HP:0011365 |
| HPO |
HP:0002212 |
Curly hair |
— |
— |
HP:0010719 |
| HPO |
HP:0002213 |
Fine hair |
"Hair that is fine or thin to the touch." [HPO:probinson] |
— |
HP:0010719 |
| HPO |
HP:0002215 |
Sparse axillary hair |
"Reduced number or density of axillary hair." [HPO:probinson] |
— |
HP:0008070, HP:0100134 |