|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000612)
|
Iris coloboma |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
6
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
7
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|