|
1
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
2
|
(HPO:0001083)
|
Ectopia lentis |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
3
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
5
|
(HPO:0000540)
|
Hypermetropia |
Occasional [Orphanet]
|
|
|
|
99 / 7739
|
|
6
|
(HPO:0007720)
|
Flat cornea |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0001519)
|
Disproportionate tall stature |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0001131)
|
Corneal dystrophy |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0007700)
|
Anterior segment dysgenesis |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0000517)
|
Abnormality of the lens |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0100719)
|
Lens coloboma |
Occasional [Orphanet]
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
14
|
(HPO:0000483)
|
Astigmatism |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|