|
1
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
3
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
10
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Very frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0000478)
|
Abnormality of the eye |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
14
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
15
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
16
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|