Hemiplegia/hemiparesis
|
disease |
|
Disease or Syndrome
|
112
|
2
|
0.100 |
None |
|
0 |
|
|
|
Electroretinogram abnormal
|
phenotype |
|
Finding
|
158
|
10
|
0.100 |
None |
|
0 |
|
|
|
Pallor of optic disc
|
phenotype |
|
Finding
|
98
|
4
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
1
|
|
|
Gastrointestinal dysmotility
|
phenotype |
|
Finding
|
28
|
13
|
0.100 |
None |
|
0 |
1
|
|
|
Aplasia/Hypoplasia of the cerebellar vermis
|
phenotype |
|
Finding
|
30
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Attenuation of retinal blood vessels
|
phenotype |
|
Finding
|
41
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the optic disc
|
phenotype |
|
Finding
|
26
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.330 |
None |
1.000 |
3 |
|
2014 |
2018 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
2 |
|
2016 |
2018 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Hereditary macular coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
11
|
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Malformations of Cortical Development, Group II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
180
|
101
|
0.100 |
None |
|
0 |
|
|
|
Leber Congenital Amaurosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
83
|
109
|
0.800 |
limited |
1.000 |
17 |
6
|
2003 |
2018 |
LEBER CONGENITAL AMAUROSIS 9 (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
6
|
22
|
0.940 |
None |
1.000 |
15 |
22
|
2003 |
2018 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
1.000 |
10 |
3
|
2006 |
2018 |
Congenital Amaurosis of Retinal Origin
|
disease |
Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
4 |
|
2012 |
2012 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.130 |
None |
1.000 |
3 |
1
|
2014 |
2018 |
Retinal Degeneration
|
phenotype |
Eye Diseases
|
Pathologic Function
|
125
|
2
|
0.500 |
None |
1.000 |
1 |
|
2012 |
2012 |
Age related macular degeneration
|
disease |
Eye Diseases
|
Disease or Syndrome
|
685
|
663
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |