Db	Link	Name	Definition	Comment	Is a
HPO	HP:0001321	Cerebellar hypoplasia	"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time." [HPO:probinson, PMID:26331051, PMID:27160001]	By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). Cerebellar hypoplasia (CH) refers to an underdevelopment of the cerebellum. This category of cerebellar malformation is distinct from Dandy Walker malformation in that it does not involve a concurrent enlargement of the posterior fossa, and almost all individuals exhibit cognitive and motor impairments.	HP:0007360
HPO	HP:0032388	Periventricular nodular heterotopia	"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple." [COST:neuromig, PMID:22427329]	—	HP:0007165
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:0001357	Plagiocephaly	"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [PMID:19125436]	Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone.	HP:0002648
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:0000664	Synophrys	"Meeting of the medial eyebrows in the midline." [PMID:19125427]	—	HP:0000534, HP:0002219
HPO	HP:0000006	Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]	—	HP:0000005
HPO	HP:0000331	Short chin	"Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin." [HPO:probinson, PMID:19125436]	The term "micrognathia" should be used when the chin is both short (vertical dimension) and narrow (horizontal dimension).	HP:0000306
HPO	HP:0000378	Cupped ear	"Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, PMID:19162421, PMID:22073081]	—	HP:0000377
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:0000486	Strabismus	"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis]	—	HP:0000549
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:0001252	Hypotonia	"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist." [HPO:probinson, PMID:21418198]	Hypotonia can be caused by abnormalities of the central nervous system, any element of the motor unit (including the lower motoneuron), or both. Hypotonia is not a specific diagnosis, but can be observed in hundreds of genetic and other diseases. The first distinction to make when assessing a child with hypotonia is whether decreased muscle tone is a result of an abnormality of the central nervous system (CNS), peripheral neuromuscular system, or a combined abnormality involving both. Clinical findings suggestive of an abnormality of the CNS may include hyperreflexia, cognitive developmental delay, and seizures. In contrast, physical findings pointing towards a neuromuscular origin may include weakness, lack of antigravity movements, muscle atrophy, fasciculations, and/or diminished reflexes, most often in the context of normal cognitive function. The HPO term does not distinguish between these etiologies. Additional HPO terms should be used as required to describe associated features.	HP:0003808
HPO	HP:0001212	Prominent fingertip pads	"A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:probinson]	—	HP:0001211, HP:0011298
HPO	HP:0000322	Short philtrum	"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [PMID:19152422]	—	HP:0000288