|
1
|
(OMIM)
|
Coenzyme Q10 deficiency |
|
|
17186472
|
IBIS
|
3 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
17186472
|
IBIS
|
83 / 7739
|
|
3
|
(HPO:0000112)
|
Nephropathy |
|
|
17186472
|
IBIS
|
92 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
17186472
|
IBIS
|
101 / 7739
|
|
5
|
(MedDRA:10053584)
|
Neonatal pneumonia |
|
|
17186472
|
IBIS
|
1 / 7739
|
|
6
|
(HPO:0002090)
|
Pneumonia |
|
|
17186472
|
IBIS
|
59 / 7739
|
|
7
|
(OMIM)
|
Seizures, refractory, infantile-onset |
|
|
17186472
|
IBIS
|
2 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
17186472
|
IBIS
|
1245 / 7739
|
|
9
|
(HPO:0002572)
|
Episodic vomiting |
|
|
17186472
|
IBIS
|
12 / 7739
|
|
10
|
(HPO:0000969)
|
Edema |
|
|
17186472
|
IBIS
|
117 / 7739
|
|
11
|
(HPO:0012116)
|
Abnormal albumin level |
|
|
17186472
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0000093)
|
Proteinuria |
|
|
17186472
|
IBIS
|
169 / 7739
|
|
13
|
(HPO:0002151)
|
Increased serum lactate |
|
|
17186472
|
IBIS
|
92 / 7739
|
|
14
|
(MedDRA:10057977)
|
Lactate pyruvate ratio increased |
|
|
17186472
|
IBIS
|
3 / 7739
|
|
15
|
(HPO:0011193)
|
EEG with focal spikes |
|
|
17186472
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0003548)
|
Subsarcolemmal accumulations of abnormally shaped mitochondria |
|
|
17186472
|
IBIS
|
9 / 7739
|
|
17
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
17186472
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
17186472
|
IBIS
|
22 / 7739
|
|
19
|
(HPO:0002133)
|
Status epilepticus |
|
|
17186472
|
IBIS
|
59 / 7739
|
|
20
|
(HPO:0012379)
|
Abnormal enzyme/coenzyme activity |
|
|
17186472
|
IBIS
|
3 / 7739
|
|
21
|
(HPO:0001510)
|
Growth delay |
|
|
17186472
|
IBIS
|
295 / 7739
|
|
22
|
(HPO:0002453)
|
Abnormality of the globus pallidus |
|
|
17186472
|
IBIS
|
4 / 7739
|
|
23
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
17186472
|
IBIS
|
73 / 7739
|
|
24
|
(HPO:0002353)
|
EEG abnormality |
|
|
17186472
|
IBIS
|
188 / 7739
|
|
25
|
(MedDRA:10051004)
|
Floppy infant |
|
|
17186472
|
IBIS
|
5 / 7739
|
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
17186472
|
IBIS
|
153 / 7739
|
|
27
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
17186472
|
IBIS
|
40 / 7739
|
|
28
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
17186472
|
IBIS
|
13 / 7739
|
|
29
|
(OMIM)
|
Encephalomyopathy |
|
|
17186472
|
IBIS
|
2 / 7739
|
|
30
|
(HPO:0003198)
|
Myopathy |
|
|
17186472
|
IBIS
|
151 / 7739
|
|
31
|
(HPO:0001298)
|
Encephalopathy |
|
|
17186472
|
IBIS
|
72 / 7739
|
|
32
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
17186472
|
IBIS
|
34 / 7739
|