|
1
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
6
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
7
|
(OMIM)
|
Keratoconus, bilateral |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0001678)
|
Atrioventricular block |
|
|
|
|
59 / 7739
|
|
9
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
|
10
|
(HPO:0011710)
|
Bundle branch block |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0012723)
|
Sinoatrial block |
|
|
|
|
4 / 7739
|