|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
3
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0002414)
|
Spina bifida |
|
|
|
|
47 / 7739
|
|
6
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
7
|
(HPO:0006844)
|
Absent patellar reflexes |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0007686)
|
Abnormal pupillary function |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0007945)
|
Choroidal degeneration |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Abnormal pupillary shape |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Absent patellar and Achilles reflexes |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
13
|
(HPO:0200065)
|
Chorioretinal degeneration |
|
|
|
|
7 / 7739
|