|
1
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002514)
|
Cerebral calcification |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
9
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
10
|
(HPO:0003326)
|
Myalgia |
Very frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
11
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
13
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
14
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
15
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
16
|
(HPO:0012639)
|
Abnormality of nervous system morphology |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0000077)
|
Abnormality of the kidney |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
18
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
19
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0002913)
|
Myoglobinuria |
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|