Total 15 clinical symptoms reported for Congenital hypotrichosis with juvenile macular dystrophy
Abnormality of macular pigmentation |
Abnormality of macular or foveal pigmentation.
|
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 |
Macular degeneration |
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Synonyms:Pigmented macular degeneration |
Very frequent |
Short stature |
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile |
Very frequent |
Sparse scalp hair |
Decreased number of hairs per unit area of skin of the scalp.
Synonyms:Decreased number of scalp follicles; Hypotrichosis on scalp; Reduced amount of scalp hair; Reduced/lack of hair on scalp; Reduction in the number of scalp follicles; Scalp hypotrichosis; Sparse scalp hair; Thinning scalp hair |
Very frequent |