|
1
|
(HPO:0000622)
|
Blurred vision |
|
|
|
|
14 / 7739
|
|
2
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0001350)
|
Slurred speech |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002064)
|
Spastic gait |
|
|
|
|
46 / 7739
|
|
8
|
(HPO:0002131)
|
Episodic ataxia |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
10
|
(HPO:0002321)
|
Vertigo |
|
|
|
|
58 / 7739
|
|
11
|
(HPO:0002411)
|
Myokymia |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
14
|
(OMIM)
|
Episodic vertigo |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Blurred vision, episodic |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Hand posture resembling carpopedal spasm, episodic |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Calf muscle enlargement |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
EMG shows polyphasic continuous motor unit discharges |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Muscle biopsy shows enlargement of type I muscle fibers, consistent with denervation |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Incoordination of the hands |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Leg stiffness |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Myokymia, interictal |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Jerking movements of face and limbs |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
[DEL]Increased serum creatine kinase during episodes |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|