|
1
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000738)
|
Hallucinations |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0002017)
|
Nausea and vomiting |
Occasional [Orphanet]
|
|
|
|
134 / 7739
|
|
8
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0002354)
|
Memory impairment |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
11
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
12
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
14
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
15
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
16
|
(HPO:0004305)
|
Involuntary movements |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0002372)
|
Normal interictal EEG |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0007334)
|
Bilateral convulsive seizures |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0011146)
|
Dialeptic seizures |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0040168)
|
Focal seizures, afebril |
|
|
|
|
6 / 7739
|