|
1
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000615)
|
Abnormality of the pupil |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0001022)
|
Albinism |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
9
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
10
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
11
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
12
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|