|
1
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
|
2
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
3
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
4
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0003457)
|
EMG abnormality |
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0007787)
|
Posterior subcapsular cataract |
|
|
|
|
20 / 7739
|
|
10
|
(OMIM)
|
Progressive chorioretinal degeneration |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Progressive loss of peripheral vision (onset in first decade) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Mild proximal muscle weakness (<10% of patients) |
|
|
|
|
5 / 7739
|
|
13
|
(OMIM)
|
Tubular aggregates in type 2 skeletal muscle fibers |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Elevated plasma ornithine (~10-fold) |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Ornithine-delta-aminotransferase (OAT) deficiency |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Plasma ammonia not elevated |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Elevated urinary ornithine, lysine, arginine |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased plasma lysine, glutamic acid, and glutamine |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|