| HPO |
HP:0001256 |
Intellectual disability, mild |
"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] |
— |
HP:0001249 |
| 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:0000954 |
Single transverse palmar crease |
"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, PMID:19125433] |
The presence of a single palmar crease (instead of the two palmar creases that are typically present). |
HP:0010490 |
| HPO |
HP:0011342 |
Mild global developmental delay |
"A mild delay in the achievement of motor or mental milestones in the domains of development of a child." [DDD:hvfirth] |
— |
HP:0001263 |
| HPO |
HP:0030048 |
Colpocephaly |
"Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles." [PMID:4058748] |
— |
HP:0030047 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0001629 |
Ventricular septal defect |
"A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:probinson, PMID:33327983] |
— |
HP:0010438 |
| HPO |
HP:0009623 |
Proximal placement of thumb |
"Proximal mislocalization of the thumb." [HPO:probinson, PMID:19125433] |
Thumb placement index greater than 0.55; or, the base of the thumb appears closer to the wrist than is typical. The technique for the thumb placement index is described in detail [Malina et al., 1973; Hall et al., 2007]. Briefly, the thumb placement index is the distance from the proximal crease of the index finger to the angle of the first interdigital space divided by the distance from the proximal crease of the index finger to the wrist flexion crease at the base of the thumb. This term should not be used with Preaxial polydactyly. |
HP:0009603 |
| HPO |
HP:0011968 |
Feeding difficulties |
"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs] |
— |
HP:0011458 |
| HPO |
HP:0000494 |
Downslanted palpebral fissures |
"The palpebral fissure inclination is more than two standard deviations below the mean." [PMID:19125427] |
— |
HP:0200006 |
| 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:0002263 |
Exaggerated cupid's bow |
"More pronounced paramedian peaks and median notch of the Cupid's bow." [PMID:19125428] |
This may be associated with a Deep philtrum, but that finding should be coded separately. |
HP:0011339 |
| HPO |
HP:0000369 |
Low-set ears |
"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, PMID:19152421] |
— |
HP:0000357 |
| 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:0000411 |
Protruding ear |
"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [PMID:19152421] |
— |
HP:0000377 |
| 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:0000729 |
Autistic behavior |
"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior." [HPO:probinson, PMID:28879490] |
This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. |
HP:0000708 |
| 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:0004467 |
Preauricular pit |
"Small indentation anterior to the insertion of the ear." [HPO:sdoelken, PMID:19152421] |
Preauricular cysts and sinuses are ectodermal remnants from an aberrant development of the auditory tubercles, tend to be bilateral and are localized anterior to the tragus of the ear. The preauricular sinus is a benign congenital lesion of the preauricular soft tissue consisting of a blind-ending narrow tube or pit. It is also known as preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. It can be asymptomatic or present as an infected and discharging sinus. It presents as a small pit adjacent to the external ear usually located at the anterior margin of the ascending limb of the helix. The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. |
HP:0100277 |
| HPO |
HP:0001290 |
Generalized hypotonia |
"Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] |
— |
HP:0001252 |
| HPO |
HP:0008551 |
Microtia |
"Underdevelopment of the external ear." [HPO:probinson, PMID:19152421, PMID:3270622] |
The definitions of microtia follow a widely used, surgically based, classification of ear anomalies outlined by Weerda 1988. As microtia indicates at least both decreased length and width, and in more severe forms it includes abnormal shape of structures, all forms are acknowledged to be bundled terms, but are retained here because they are well established. |
HP:0000377, HP:0008772 |
| HPO |
HP:0004209 |
Clinodactyly of the 5th finger |
"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators, PMID:16252026] |
Minor degrees of curvature of the small finger are so common as to be considered normal. |
HP:0009179, HP:0040019 |
| HPO |
HP:0031348 |
Dextrotransposition of the great arteries |
"A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA." [PMID:25082585] |
— |
HP:0001669 |
| HPO |
HP:0000365 |
Hearing impairment |
"A decreased magnitude of the sensory perception of sound." [HPO:probinson] |
Hearing loss can be categorized by which part of the auditory system is damaged, as conductive hearing loss, sensorineural hearing loss, and mixed hearing loss. Another axis of classification uses the degree of hearing impairment. The degree of hearing loss is computed by using a three frequency average taken at 500 Hz, 1,000 Hz and 2,000 Hz. The average of these three frequencies is called the Pure Tone Average (PTA). 0-20 dB is considered normal, 21-40 dB mild loss, 41-60 dB moderate loss, 61-70 dB moderately severe loss,71-90 dB severe loss, and greater than 90 dB profound loss. Note that the word deafness is occasionally used to describe partial hearing loss. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. |
HP:0000364 |
| HPO |
HP:0002119 |
Ventriculomegaly |
"An increase in size of the ventricular system of the brain." [HPO:probinson] |
— |
HP:0002118 |