|
1
|
(HPO:0001250)
|
Seizures |
|
|
19375058
|
IBIS
|
1245 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
19375058
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
19375058
|
IBIS
|
197 / 7739
|
|
4
|
(HPO:0001347)
|
Hyperreflexia |
|
|
19375058
|
IBIS
|
363 / 7739
|
|
5
|
(HPO:0001612)
|
Weak cry |
|
|
19375058
|
IBIS
|
17 / 7739
|
|
6
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
19375058
|
IBIS
|
76 / 7739
|
|
7
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
19375058
|
IBIS
|
171 / 7739
|
|
8
|
(HPO:0002151)
|
Increased serum lactate |
|
|
19375058
|
IBIS
|
92 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
19375058
|
IBIS
|
116 / 7739
|
|
10
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
19375058
|
IBIS
|
32 / 7739
|
|
11
|
(HPO:0011968)
|
Feeding difficulties |
|
|
19375058
|
IBIS
|
240 / 7739
|
|
12
|
(HPO:0008314)
|
Decreased activity of mitochondrial complex II |
|
|
11562630
|
IBIS
|
7 / 7739
|
|
13
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
11562630
|
IBIS
|
22 / 7739
|
|
14
|
(HPO:0000091)
|
Abnormality of the renal tubule |
|
|
11562630
|
IBIS
|
15 / 7739
|
|
15
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
11562630
|
IBIS
|
137 / 7739
|
|
16
|
(MedDRA:10053839)
|
Ubiquinone decreased |
|
|
11562630
|
IBIS
|
2 / 7739
|
|
17
|
(HPO:0012379)
|
Abnormal enzyme/coenzyme activity |
|
|
11562630
|
IBIS
|
3 / 7739
|
|
18
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
19375058
|
IBIS
|
23 / 7739
|
|
19
|
(HPO:0002045)
|
Hypothermia |
|
|
19375058
|
IBIS
|
27 / 7739
|
|
20
|
(HPO:0001276)
|
Hypertonia |
|
|
19375058
|
IBIS
|
317 / 7739
|
|
21
|
(HPO:0001332)
|
Dystonia |
|
|
19375058
|
IBIS
|
197 / 7739
|