Dyschromatopsia
|
disease |
|
Disease or Syndrome
|
19
|
1
|
0.100 |
None |
|
0 |
|
|
|
Full thickness hole of macula lutea
|
disease |
Eye Diseases
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Juvenile-Onset Vitelliform Macular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Abnormal light- and dark-adapted electroretinogram
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of fundus pigmentation
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Choriocapillaris atrophy
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Peripheral visual field loss
|
phenotype |
|
Finding
|
19
|
4
|
0.100 |
None |
|
0 |
|
|
|
Attenuation of retinal blood vessels
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Lenticonus
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
Retinal thinning
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Visual field constriction
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
57
|
1
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Pigmentary iris degeneration
|
phenotype |
Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Scotoma, Central
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
43
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Patterned dystrophy of retinal pigment epithelium
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
|
0 |
|
|
|
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.100 |
None |
|
0 |
|
|
|
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Macular Dystrophy, Butterfly-Shaped Pigmentary, 2
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
4
|
0.300 |
None |
|
0 |
|
|
|
Progressive visual loss
|
phenotype |
|
Finding
|
77
|
11
|
0.100 |
None |
|
0 |
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Retinal pigment epithelial atrophy
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|