|
1
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0000512)
|
Abnormal electroretinogram |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
Very frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0004305)
|
Involuntary movements |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
10
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
12
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
15
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
16
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
18
|
(HPO:0001311)
|
Abnormal nervous system electrophysiology |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
20
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
21
|
(HPO:0002074)
|
Increased neuronal autofluorescent lipopigment |
|
|
|
|
10 / 7739
|
|
22
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
23
|
(HPO:0003205)
|
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
|
|
|
|
10 / 7739
|
|
24
|
(HPO:0003463)
|
Increased extraneuronal autofluorescent lipopigment |
|
|
|
|
3 / 7739
|