|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
5
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
6
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
10
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
11
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
14
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
19
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
20
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0008955)
|
Progressive distal muscular atrophy |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
23
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
24
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
25
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
26
|
(OMIM)
|
Muscle biopsy showed neurogenic atrophy |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
EMG shows chronic denervation |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Normal early psychomotor development |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Loss of independent ambulation |
|
|
|
|
5 / 7739
|
|
30
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
31
|
(OMIM)
|
3-4 Hz slow sharp waves seen on EEG |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal serum creatine kinase |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
37
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|