|
1
|
(HPO:0000519)
|
Congenital cataract |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
2
|
(HPO:0000541)
|
Retinal detachment |
rare [HPO:skoehler]
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0007899)
|
Retinal nonattachment |
|
|
|
|
10 / 7739
|
|
4
|
(HPO:0000575)
|
Scotoma |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0000622)
|
Blurred vision |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0000646)
|
Amblyopia |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0001136)
|
Retinal arteriolar tortuosity |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
9
|
(HPO:0002077)
|
Migraine with aura |
|
|
|
|
14 / 7739
|
|
10
|
(HPO:0006859)
|
Posterior leukoencephalopathy |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001089)
|
Iris atrophy |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0007676)
|
Hypoplasia of the iris |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0007990)
|
Hypoplastic iris stroma |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
|
|
|
|
38 / 7739
|
|
15
|
(HPO:0007894)
|
Hypopigmentation of the fundus |
|
|
|
|
14 / 7739
|
|
16
|
(OMIM)
|
Scotomas, episodic |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Blurred vision, episodic |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Axenfeld-Rieger anomalies (reported in 1 family) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Infantile hemiparesis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
White matter hyperintensities (MRI, T2 images) suggestive of old infarcts |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Deep hypointensities (MRI, T2) suggestive of past microbleeds |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Dilated perivascular spaces |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0000482)
|
Microcornea |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
25
|
(HPO:0000483)
|
Astigmatism |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
26
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
27
|
(HPO:0000501)
|
Glaucoma |
rare [HPO:skoehler]
|
|
|
|
180 / 7739
|
|
28
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
29
|
(HPO:0000545)
|
Myopia |
rare [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
30
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
31
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
32
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
33
|
(HPO:0002132)
|
Porencephaly |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
34
|
(HPO:0007957)
|
Corneal opacity |
rare [HPO:skoehler]
|
|
|
|
84 / 7739
|
|
35
|
(HPO:0009918)
|
Ectopia pupillae |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
36
|
(HPO:0011496)
|
Corneal neovascularization |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0011500)
|
Polycoria |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|