|
1
|
(HPO:0000482)
|
Microcornea |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
2
|
(HPO:0000308)
|
Microretrognathia |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
5
|
(HPO:0007957)
|
Corneal opacity |
hallmark [HPO:curators]
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0001131)
|
Corneal dystrophy |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
32% [HPO:curators]
|
|
14711722
|
IBIS
|
555 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000486)
|
Strabismus |
16% [HPO:curators]
|
|
14711722
|
IBIS
|
576 / 7739
|
|
11
|
(HPO:0001087)
|
Congenital glaucoma |
common [HPO:curators]
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0000517)
|
Abnormality of the lens |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
14
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000659)
|
Peters anomaly |
|
|
|
|
10 / 7739
|