Db	Link	Name	Definition	Comment	Is a
HPO	HP:0000194	Open mouth	"A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson]	—	HP:0011338
HPO	HP:0006829	Severe muscular hypotonia	"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators]	—	HP:0001252
HPO	HP:0008872	Feeding difficulties in infancy	"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention." [HPO:probinson]	—	HP:0011968
HPO	HP:0001272	Cerebellar atrophy	"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [HPO:probinson, PMID:12169461, PMID:26331051]	Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.	HP:0001317
HPO	HP:0000253	Progressive microcephaly	"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson]	—	HP:0005484
HPO	HP:0002126	Polymicrogyria	"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds)." [COST:neuromig, HPO:probinson, PMID:24888723]	Polymicrogyria, one of the most common malformations of cortical development, is characterized histologically by the appearance of an excessive number of small cortical folds, often fused together, with disordered cortical lamination.	HP:0002536
HPO	HP:0100540	Palpebral edema	"Edema in the region of the eyelids." [HPO:probinson]	—	HP:0000492, HP:0100539
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
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:0012398	Peripheral edema	"An abnormal accumulation of interstitial fluid in the soft tissues of the limbs." [HPO:probinson]	—	HP:0000969
HPO	HP:0010864	Intellectual disability, severe	"Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]	Persons with severe mental retardation can be taught basic life skills and simple tasks with supervision.	HP:0001249
HPO	HP:0000194	Open mouth	"A facial appearance characterized by a permanently or nearly permanently opened mouth." [HPO:probinson]	—	HP:0011338
HPO	HP:0006829	Severe muscular hypotonia	"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators]	—	HP:0001252
HPO	HP:0010741	Pedal edema	"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg." [HPO:probinson]	—	HP:0000969, HP:0002814
HPO	HP:0000293	Full cheeks	"Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie]	—	HP:0004426
HPO	HP:0002804	Arthrogryposis multiplex congenita	"Multiple congenital contractures in different body areas." [HPO:probinson, PMID:23050160]	Arthrogryposis multiplex congenita (AMC) consists of several conditions of different etiology and mixed clinical features, including multiple congenital contractures in multiple body areas. Here, we use the term to refer solely to the multiple congenital contractures. It is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature.	HP:0002803
HPO	HP:0000572	Visual loss	"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that)." [HPO:sdoelken]	—	HP:0000505
HPO	HP:0000174	Abnormal palate morphology	"Any abnormality of the palate, i.e., of roof of the mouth." [HPO:probinson]	—	HP:0000163
HPO	HP:0007366	Atrophy/Degeneration affecting the brainstem	—	—	HP:0002363, HP:0007367
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:0001272	Cerebellar atrophy	"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [HPO:probinson, PMID:12169461, PMID:26331051]	Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss.	HP:0001317
HPO	HP:0002329	Drowsiness	"Excessive daytime sleepiness." [HPO:probinson]	—	HP:0004372
HPO	HP:0001376	Limitation of joint mobility	"A reduction in the freedom of movement of one or more joints." [HPO:probinson]	—	HP:0011729
HPO	HP:0000238	Hydrocephalus	"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, PMID:18211712, PMID:19410151]	Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord.	HP:0002118, HP:0002921
HPO	HP:0004422	Biparietal narrowing	"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators]	—	HP:0002648