Db	Link	Name	Definition	Comment	Is a
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: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:0000582	Upslanted palpebral fissure	"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [PMID:19125427]	—	HP:0200006
HPO	HP:0000272	Malar flattening	"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation." [HPO:probinson, ORCID:0000-0001-5889-4463, PMID:19125436]	The malar process is the most medial and superior portion of the bony midface, articulating with the maxilla and temporal and sphenoid bones, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. {xref="ORCID:0000-0001-5889-4463"}	HP:0012369
HPO	HP:0000407	Sensorineural hearing impairment	"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve." [HPO:probinson]	Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve).	HP:0000365, HP:0011389
HPO	HP:0008064	Ichthyosis	"An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization." [HPO:probinson]	The ichthyoses are a group of skin diseases characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. The abnormality in ichthyosis lies in am imbalance in the normal lifecycle of skin in which growth is matched with dying and shedding of skin cells. In ichthyosis, skin cells reproduce at a rate faster than dead skin cells can be shed or reproduce at a normal rate with a reduction in the rate of shedding. Either abnormality leads to a build up of dry and scaly skin. Note that this term refers to the morphological abnormality of the skin and not the disorder.	HP:0011368
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:0003510	Severe short stature	"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson]	The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm).	HP:0003508
HPO	HP:0002007	Frontal bossing	"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [PMID:19125436]	This is not the same as prominent forehead.	HP:0000290, HP:0011218
HPO	HP:0000175	Cleft palate	"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate)." [HPO:probinson]	Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.	HP:0000202, HP:0100737
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:0003417	Coronal cleft vertebrae	"Frontal schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson]	Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed.	HP:0008428
HPO	HP:0010655	Epiphyseal stippling	"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses." [HPO:probinson]	Stippling resolves with maturation of the epiphysis but is often replaced by some permament epiphyseal abnormality.	HP:0005930, HP:0010656, HP:0010766
HPO	HP:0001525	Severe failure to thrive	—	—	HP:0001508
HPO	HP:0001371	Flexion contracture	"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson]	—	HP:0003549, HP:0011729, HP:0011805, HP:0100261
HPO	HP:0002120	Cerebral cortical atrophy	"Atrophy of the cortex of the cerebrum." [HPO:probinson]	Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging.	HP:0002059, HP:0002538
HPO	HP:0005841	Calcific stippling of infantile cartilaginous skeleton	—	—	HP:0003336
HPO	HP:0000519	Developmental cataract	"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens." [HPO:probinson]	In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy.	HP:0000518, HP:0007700
HPO	HP:0008905	Rhizomelia	"Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." [HPO:probinson]	—	HP:0008873, HP:0009826
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: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:0012368	Flat face	"Absence of concavity or convexity of the face when viewed in profile." [PMID:19125436]	A useful guide is to imagine that a line connecting the glabella to the anterior most part of the mandible touches the top of the philtrum where it meets the base of the columella. The glabella is the most prominent point on the frontal bone above the root of the nose. If the superior philtrum is anterior to this line the face is convex, if the superior philtrum is posterior to this line the face is concave.	HP:0001999
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:0003015	Flared metaphysis	"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones." [HPO:probinson, PMID:12853662]	Figure 11 of PMID:12853662 shows metaphyseal flaring.	HP:0003016
HPO	HP:0001257	Spasticity	"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson]	—	HP:0001276, HP:0002493