|
1
|
(HPO:0001297)
|
Stroke |
|
|
17564966
|
IBIS
|
44 / 7739
|
|
2
|
(HPO:0001298)
|
Encephalopathy |
|
|
25721401
|
IBIS
|
72 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23996478
|
IBIS
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
26669660
|
IBIS
|
859 / 7739
|
|
5
|
(HPO:0001399)
|
Hepatic failure |
|
|
17564966
|
IBIS
|
80 / 7739
|
|
6
|
(HPO:0001414)
|
Microvesicular hepatic steatosis |
|
|
17564966
|
IBIS
|
9 / 7739
|
|
7
|
(HPO:0001635)
|
Congestive heart failure |
|
|
17564966
|
IBIS
|
232 / 7739
|
|
8
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
26669660
|
IBIS
|
137 / 7739
|
|
9
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
17564966
|
IBIS
|
141 / 7739
|
|
10
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
17564966
|
IBIS
|
224 / 7739
|
|
11
|
(HPO:0001943)
|
Hypoglycemia |
|
|
17564966
|
IBIS
|
131 / 7739
|
|
12
|
(HPO:0002181)
|
Cerebral edema |
|
|
17564966
|
IBIS
|
19 / 7739
|
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
17564966
|
IBIS
|
158 / 7739
|
|
14
|
(HPO:0003128)
|
Lactic acidosis |
|
|
26826406
|
IBIS
|
116 / 7739
|
|
15
|
(HPO:0003215)
|
Dicarboxylic aciduria |
Occasional [HPO:probinson]
|
|
17564966
|
IBIS
|
7 / 7739
|
|
16
|
(HPO:0003546)
|
Exercise intolerance |
|
|
26669660
|
IBIS
|
62 / 7739
|
|
17
|
(OMIM)
|
Decreased mitochondrial complex I activity |
|
|
26669660
|
IBIS
|
2 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
23996478
|
IBIS
|
482 / 7739
|
|
19
|
(OMIM)
|
Cerebellar stroke |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Reye-like episode |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
21
|
(OMIM)
|
Elevated plasma ammonia |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
22
|
(OMIM)
|
Elevated liver transaminases |
|
|
17564966
|
IBIS
|
2 / 7739
|
|
23
|
(OMIM)
|
Elevated serum lactate |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
24
|
(OMIM)
|
Elevated lactate dehydrogenase |
|
|
17564966
|
IBIS
|
4 / 7739
|
|
25
|
(OMIM)
|
Elevated prothrombin time |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Hypoketotic dicarboxylic aciduria (in some patients) |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
27
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
25721401
|
IBIS
|
192 / 7739
|
|
28
|
(HPO:0001522)
|
Death in infancy |
|
|
25721401
|
IBIS
|
275 / 7739
|
|
29
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
26669660
|
IBIS
|
34 / 7739
|
|
30
|
(HPO:0100543)
|
Cognitive impairment |
|
|
26669660
|
IBIS
|
230 / 7739
|
|
31
|
(HPO:0001250)
|
Seizures |
|
|
26669660
|
IBIS
|
1245 / 7739
|
|
32
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
26669660
|
IBIS
|
18 / 7739
|
|
33
|
(HPO:0000083)
|
Renal insufficiency |
|
|
26669660
|
IBIS
|
232 / 7739
|
|
34
|
(OMIM)
|
Liver necrosis |
|
|
17564966
|
IBIS
|
2 / 7739
|
|
35
|
(HPO:0001992)
|
Organic aciduria |
|
|
17564966
|
IBIS
|
28 / 7739
|
|
36
|
(OMIM)
|
Increased urinary lactate |
|
|
17564966
|
IBIS
|
4 / 7739
|
|
37
|
(MedDRA:10057597)
|
Urine ketone body present |
|
|
17564966
|
IBIS
|
1 / 7739
|
|
38
|
(HPO:0002919)
|
Ketonuria |
|
|
17564966
|
IBIS
|
18 / 7739
|