Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|
Hyperkeratosis
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
176
|
19
|
0.100 |
None |
|
0 |
|
|
|
Iris transillumination defect
|
phenotype |
|
Finding
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Absent skin pigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|
Multiple lentigines
|
disease |
|
Disease or Syndrome
|
13
|
12
|
0.100 |
None |
|
0 |
|
|
|
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome; Congenital Abnormality
|
3
|
2
|
0.300 |
None |
|
0 |
1
|
|
|
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Exotropia
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
78
|
23
|
0.100 |
None |
|
0 |
|
|
|
Vestibular hypofunction
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
3
|
|
|
Hyperopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
142
|
29
|
0.100 |
None |
|
0 |
|
|
|
Choroidal Neovascularization
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases
|
Pathologic Function
|
31
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Abnormal retinal morphology
|
phenotype |
Eye Diseases
|
Finding
|
13
|
8
|
0.100 |
None |
|
0 |
2
|
|
|
Retinal depigmentation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
5
|
0.100 |
None |
|
0 |
|
|
|
Pigmentary iris degeneration
|
phenotype |
Eye Diseases; Skin and Connective Tissue Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic nerve
|
phenotype |
|
Finding
|
18
|
11
|
0.100 |
None |
|
0 |
2
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
2
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Thick skin
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
3
|
|
|
Abnormal visual evoked potential
|
phenotype |
Nervous System Diseases
|
Finding
|
55
|
5
|
0.100 |
None |
|
0 |
|
|
|
blue iris (physical finding)
|
phenotype |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|