| HP:0000275 | Narrow face | |
Show
|
| HP:0000276 | Long face | |
Show
|
| HP:0000303 | Mandibular prognathia | "Abnormal prominence of the chin related to an abnormally long mandible." [HPO:curators] |
Show
|
| HP:0000400 | Large ears | |
Show
|
| HP:0000411 | Protruding ears | |
Show
|
| HP:0000426 | Prominent nasal bridge | |
Show
|
| HP:0000448 | Prominent nose | |
Show
|
| HP:0000482 | Microcornea | "A congenital abnormality of the `cornea` (FMA:58238) in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood." [HPO:probinson] |
Show
|
| HP:0000486 | Strabismus | "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] |
Show
|
| HP:0000501 | Glaucoma | "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] |
Show
|
| HP:0000505 | Impaired vision | |
Show
|
| HP:0000518 | Cataract | "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson] |
Show
|
| HP:0000519 | Congenital cataract | "A congenital `cataract` (HP:0000518)." [HPO:probinson] |
Show
|
| HP:0000541 | Detached retina | |
Show
|
| HP:0000568 | Microphthalmos | "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] |
Show
|
| HP:0000572 | Visual loss | |
Show
|
| HP:0000639 | Nystagmus | "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] |
Show
|
| HP:0000699 | Diastema | |
Show
|
| HP:0000708 | Behavioural/Psychiatric Abnormality | |
Show
|
| HP:0000717 | Autism | |
Show
|
| HP:0001141 | Severe visual impairment | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001417 | X-linked inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] |
Show
|
| HP:0001423 | X-linked dominant inheritance | "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] |
Show
|
| HP:0001500 | Broad fingers | |
Show
|
| HP:0002342 | Mental retardation, moderate | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] |
Show
|
| HP:0006332 | Supernumerary maxillary incisors | |
Show
|
| HP:0006346 | Screwdriver blade-shaped incisors | |
Show
|
| HP:0008024 | Nuclear cataract | "A type of `congenital cataract` (HP:0000519) in which the opacities are confined to a small central area within the embryonic or fetal nuclei of the Iens. The remaining lens is clear." [HPO:probinson] |
Show
|
| HP:0008031 | Posterior Y-sutural cataract | "A type of `sutural cataract` (HP:0010695) in which the opacity follows the posterior Y suture." [HPO:probinson] |
Show
|
| HP:0009803 | Hypoplastic/small phalanges of the hand | |
Show
|
| HP:0010049 | Hypoplastic/short metacarpal bones | |
Show
|
| HP:0010695 | Sutural cataract | "A type of `congenital cataract` (HP:0000519) in which the opacity follows the anterior or posterior Y suture." [HPO:probinson] |
Show
|
| HP:0011069 | Increased number of teeth | "The presence of a `supernumerary` (PATO:0000470), i.e., extra, `tooth` (FMA:12516) or teeth." [HPO:ibailleulforestier] |
Show
|
