| HPO |
HP:0000278 |
Retrognathia |
"An abnormality in which the mandible is mislocalised posteriorly." [HPO:probinson] |
— |
HP:0000277 |
| HPO |
HP:0001250 |
Seizure |
"A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain." [HPO:probinson, PMID:15816939] |
A type of electrographic seizure has been proposed in neonates which does not have a clinical correlate, it is electrographic only. The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. |
HP:0012638 |
| HPO |
HP:0003196 |
Short nose |
"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, PMID:19152422] |
Note: a small nose has both decreased height and a decreased width. These should be coded separately. |
HP:0005105 |
| HPO |
HP:0007281 |
Developmental stagnation |
"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills." [HPO:probinson] |
— |
HP:0012759 |
| HPO |
HP:0000286 |
Epicanthus |
"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:probinson] |
In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. |
HP:0000492 |
| HPO |
HP:0012098 |
Edema of the dorsum of feet |
"An abnormal accumulation of fluid beneath the skin on the back of the feet." [HPO:probinson] |
— |
HP:0010741 |
| HPO |
HP:0010804 |
Tented upper lip vermilion |
"Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base." [PMID:19125428] |
This finding is distinguished from an Exaggerated Cupid's bow by the alteration of the shape of the oral aperture. |
HP:0011339 |
| HPO |
HP:0000341 |
Narrow forehead |
"Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [PMID:19125436] |
A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. |
HP:0000290 |
| HPO |
HP:0007105 |
Infantile encephalopathy |
"Encephalopathy with onset in the infantile period." [HPO:probinson] |
— |
HP:0001298 |
| HPO |
HP:0002079 |
Hypoplasia of the corpus callosum |
"Underdevelopment of the corpus callosum." [HPO:probinson, PMID:21263138] |
The corpus callosum appears thin in midline views of the brain in neuroradiological images. |
HP:0007370 |
| HPO |
HP:0001302 |
Pachygyria |
"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly." [COST:neuromig, HPO:probinson, PMID:22427329] |
— |
HP:0001339 |
| HPO |
HP:0002529 |
Neuronal loss in central nervous system |
— |
This finding can be demonstrated by neuropathology. |
HP:0007367 |
| HPO |
HP:0007965 |
Undetectable visual evoked potentials |
— |
— |
HP:0000649 |
| HPO |
HP:0001182 |
Tapered finger |
"The gradual reduction in girth of the finger from proximal to distal." [PMID:19125433] |
— |
HP:0100807 |
| 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: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:0007514 |
Edema of the dorsum of hands |
"An abnormal accumulation of fluid beneath the skin on the back of the hands." [HPO:probinson] |
— |
HP:0000969 |
| HPO |
HP:0003469 |
Peripheral dysmyelination |
"Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination." [HPO:probinson] |
— |
HP:0003130 |
| 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 |
| HPO |
HP:0000293 |
Full cheeks |
"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] |
— |
HP:0004426 |
| HPO |
HP:0000007 |
Autosomal recessive inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson] |
— |
HP:0000005 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| 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: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:0000648 |
Optic atrophy |
"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy." [HPO:probinson] |
The diagnosis of optic atrophy is made when the optic disc loses its normal orange-pink color. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Some of the most common etiologies are advanced glaucoma, optic neuritis, arteritic or non-arteritic ischaemic optic neuropathy or a compressive lesion. |
HP:0012795 |