Total 62 clinical symptoms reported for Atrophia bulborum hereditaria
Abnormal chorioretinal morphology |
An abnormality of the choroid and retina.
Synonyms:Chorioretinal abnormality |
Very frequent |
Abnormal retinal vascular morphology |
A structural abnormality of retinal vasculature.
Synonyms:Abnormality of retina blood vessels; Abnormality of the retinal vasculature |
Very frequent |
Anterior chamber synechiae |
This information is currently in development.
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Very frequent |
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.
Synonyms:Blindness; Total vision loss |
Very frequent |
Cataract |
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity |
Very frequent |
Corneal opacity |
A reduction of corneal clarity.
Synonyms:Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye |
Very frequent |
Deeply set eye |
An eye that is more deeply recessed into the plane of the face than is typical.
Synonyms:Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes |
Very frequent |
Hypoplasia of the iris |
Congenital underdevelopment of the iris.
Synonyms:Hypoplastic iris; Iris hypoplasia; Underdeveloped iris |
Very frequent |
Hypotelorism |
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).
Synonyms:Abnormally close eyes; Closely spaced eyes; Decreased distance between eye sockets; Decreased distance between eyes; Decreased interpupillary distance; Decreased orbital separation; Ocular hypotelorism |
Very frequent |
Macrotia |
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Synonyms:Large ears; Large pinnae |
Very frequent |
Microphthalmia |
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Synonyms:Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos |
Very frequent |
Narrow nasal bridge |
Decreased width of the bony bridge of the nose.
Synonyms:Narrow bridge of nose; Narrow nasal bridge; Narrow nasal root; Nasal Bridge, Narrow; Nasal bridge, thin |
Very frequent |
Neoplasm of the eye |
A tumor (abnormal growth of tissue) of the eye.
Synonyms:Eye tumor |
Very frequent |
Sclerocornea |
A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.
Synonyms:Hardening of skin and connective tissue |
Very frequent |
Vascular neoplasm |
A benign or malignant neoplasm (tumour) originating in the vascular system.
Synonyms:Blood vessel tumor |
Very frequent |