Db	Link	Name	Definition	Comment	Is a
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:0000316	Hypertelorism	"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [PMID:19125427]	—	HP:0100886
HPO	HP:0005280	Depressed nasal bridge	"Posterior positioning of the nasal root in relation to the overall facial profile for age." [PMID:19152422]	The adjective "depressed" here does not indicate an active process but a status. A depressed nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed independently. In infancy, the nasal bridge is relatively more posterior than in the older person. The term depressed nasal bridge should only be used when the bridge is more posterior than is typical for age and ethnic background.	HP:0000422
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:0000639	Nystagmus	"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]	—	HP:0012547
HPO	HP:0001510	Growth delay	"A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson]	Poor or abnormally slow gains in weight or height in a child.	HP:0001507
HPO	HP:0000307	Pointed chin	"A marked tapering of the lower face to the chin." [PMID:19125436]	The two rami of the mandible meet at an acute angle.	HP:0000306
HPO	HP:0002119	Ventriculomegaly	"An increase in size of the ventricular system of the brain." [HPO:probinson]	—	HP:0002118
HPO	HP:0012450	Chronic constipation	"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation." [ORCID:0000-0001-5208-3432]	—	HP:0002019
HPO	HP:0000218	High palate	"Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective)." [PMID:19125428]	The measuring device for this assessment is described in (Hall JG, Froster-Iskenius UG, Allanson JE, Gripp K, Slavotinek A. 2006. Handbook of Normal Physical Measurements. 2nd edition. Oxford Medical, publishers). A high palate is often associated with a narrow palate. However, a narrow palate can easily give a false appearance of a high palate. Height and width of the palate should be assessed and coded separately. We do not recommend the subjective determination because this term can be overused and\napplied inaccurately.	HP:0000174
HPO	HP:0000463	Anteverted nares	"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [PMID:19152422]	The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed.	HP:0000429, HP:0005105, HP:0005288
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:0001276	Hypertonia	"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move." [HPO:probinson]	Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses.	HP:0003808
HPO	HP:0000347	Micrognathia	"Developmental hypoplasia of the mandible." [HPO:probinson]	Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw.	HP:0009118
HPO	HP:0000252	Microcephaly	"Head circumference below 2 standard deviations below the mean for age and gender." [PMID:15806441, PMID:19125436, PMID:25465325, PMID:9683597]	Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles, others by standard deviations. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. Microcephaly is divided into primary microcephaly, which is present at birth, and secondary microcephaly, which develops postnatally. The crucial difference between these groupings is that primary microcephaly is usually a static developmental anomaly, whereas secondary microcephaly indicates a progressive neurodegenerative condition	HP:0007364, HP:0040195
HPO	HP:0000414	Bulbous nose	"Increased volume and globular shape of the anteroinferior aspect of the nose." [PMID:19152422]	This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip.	HP:0000436, HP:0005105
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:0007018	Attention deficit hyperactivity disorder	"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]	—	HP:0000736, HP:0000752
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:0001249	Intellectual disability	"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson]	This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263).	HP:0011446, HP:0012759
HPO	HP:0000319	Smooth philtrum	"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [PMID:19152422]	There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately.	HP:0000288
HPO	HP:0000219	Thin upper lip vermilion	"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective)." [PMID:19125428]	Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or use the Likert scale for Caucasians and African Americans [Astley and Clarren, 2000]. The height of the vermilion of the upper lip varies among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thinness of the upper lip vermilion is sensitive to facial expression. On profile view, a thin vermilion is less convex than usual. A thin upper lip vermilion may be associated with a smooth philtrum and an absence of the Cupid's bow, but these should be assessed separately.	HP:0000233, HP:0011339
HPO	HP:0011220	Prominent forehead	"Forward prominence of the entire forehead, due to protrusion of the frontal bone." [PMID:19125436]	Not to be confused with frontal bossing.	HP:0000290
HPO	HP:0005487	Prominent metopic ridge	"Vertical bony ridge positioned in the midline of the forehead." [HPO:probinson, PMID:19125436]	The ridge may extend from the hairline to the glabella or may be partial. The frontal suture of the skull is a dense connective tissue structure that divides the two halves of the frontal bone of the skull in infants and children and usually undergoes closure by the age of six years. A persistent frontal suture is known as a metopic suture or sutura frontalis persistens. This can lead to a ridged appearance of the forehead.	HP:0005556
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