|
1
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
4
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
5
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
|
14
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
15
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
16
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
17
|
(OMIM)
|
Episodic vertigo |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Blurred vision, episodic |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Hand posture resembling carpopedal spasm, episodic |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Calf muscle enlargement |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
EMG shows polyphasic continuous motor unit discharges |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Muscle biopsy shows enlargement of type I muscle fibers, consistent with denervation |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Incoordination of the hands |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Leg stiffness |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Myokymia, interictal |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Jerking movements of face and limbs |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
[DEL]Increased serum creatine kinase during episodes |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|