| HPO |
HP:0008715 |
Testicular dysgenesis |
— |
— |
HP:0000035 |
| HPO |
HP:0000037 |
Male pseudohermaphroditism |
"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] |
— |
HP:0000032 |
| HPO |
HP:0000147 |
Polycystic ovaries |
— |
— |
HP:0000138 |
| HPO |
HP:0000044 |
Hypogonadotropic hypogonadism |
"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:probinson, PMID:23503957] |
— |
HP:0000135 |
| HPO |
HP:0000602 |
Ophthalmoplegia |
"Paralysis of one or more extraocular muscles that are responsible for eye movements." [HPO:probinson] |
— |
HP:0000597 |
| HPO |
HP:0002714 |
Downturned corners of mouth |
"A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure." [HPO:probinson, PMID:19125428] |
This finding should be assessed with the mouth closed, the lips in relaxed contact, and the face relaxed. The finding may be difficult to assess if the lower lip is enlarged. Previous terms for downturned corners of mouth included Carp mouth andFish mouth which are no longer recommended (pejorative terms). |
HP:0011338 |
| HPO |
HP:0012469 |
Infantile spasms |
"Infantile spasms represent a subset of \"epileptic spasms\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig] |
— |
HP:0011097 |
| 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: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:0001792 |
Small nail |
"A nail that is diminished in length and width, i.e., underdeveloped nail." [HPO:probinson, PMID:19125433] |
— |
HP:0008386 |
| 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:0002650 |
Scoliosis |
"The presence of an abnormal lateral curvature of the spine." [HPO:probinson] |
— |
HP:0010674 |
| 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:0011800 |
Midface retrusion |
"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle." [DDD:jclayton-smith, PMID:19125436] |
— |
HP:0000309 |
| HPO |
HP:0000618 |
Blindness |
"Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation." [DDD:gblack, PMID:28779882] |
Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source. |
HP:0007663 |
| 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: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:0001572 |
Macrodontia |
"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, PMID:19125428] |
The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. |
HP:0006482 |
| HPO |
HP:0000508 |
Ptosis |
"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] |
— |
HP:0012373 |
| 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: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: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:0004558 |
Cervical platyspondyly |
"A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine." [HPO:probinson] |
— |
HP:0000926, HP:0046508 |
| 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:0000639 |
Nystagmus |
"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
— |
HP:0012547 |