|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
16574315
|
IBIS
|
853 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
19184109
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
19184109
|
IBIS
|
990 / 7739
|
|
4
|
(HPO:0002928)
|
Decreased activity of the pyruvate dehydrogenase complex |
|
|
19184109
|
IBIS
|
10 / 7739
|
|
5
|
(HPO:0003128)
|
Lactic acidosis |
|
|
19184109
|
IBIS
|
116 / 7739
|
|
6
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
19184109
|
IBIS
|
482 / 7739
|
|
7
|
(OMIM)
|
Decreased activity of the PDH phosphatase |
|
|
19184109
|
IBIS
|
1 / 7739
|
|
8
|
(HPO:0003546)
|
Exercise intolerance |
|
|
16574315
|
IBIS
|
62 / 7739
|
|
9
|
(HPO:0002789)
|
Tachypnea |
|
|
19184109
|
IBIS
|
48 / 7739
|
|
10
|
(HPO:0001943)
|
Hypoglycemia |
|
|
19184109
|
IBIS
|
131 / 7739
|
|
11
|
(HPO:0003112)
|
Abnormality of serum amino acid levels |
|
|
19184109
|
IBIS
|
2 / 7739
|
|
12
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
19184109
|
IBIS
|
19 / 7739
|
|
13
|
(HPO:0008358)
|
Hyperprolinemia |
|
|
19184109
|
IBIS
|
5 / 7739
|
|
14
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
172850
|
IBIS
|
18 / 7739
|
|
15
|
(HPO:0001992)
|
Organic aciduria |
|
|
19184109
|
IBIS
|
28 / 7739
|
|
16
|
(HPO:0012402)
|
Increased urine alpha-ketoglutarate concentration |
|
|
19184109
|
IBIS
|
3 / 7739
|
|
17
|
(HPO:0002181)
|
Cerebral edema |
|
|
19184109
|
IBIS
|
19 / 7739
|
|
18
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
19184109
|
IBIS
|
35 / 7739
|
|
19
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
19184109
|
IBIS
|
22 / 7739
|
|
20
|
(HPO:0007042)
|
Focal white matter lesions |
|
|
19184109
|
IBIS
|
7 / 7739
|
|
21
|
(HPO:0004885)
|
Episodic respiratory distress |
|
|
19184109
|
IBIS
|
2 / 7739
|
|
22
|
(HPO:0002180)
|
Neurodegeneration |
|
|
19184109
|
IBIS
|
31 / 7739
|
|
23
|
(HPO:0001254)
|
Lethargy |
|
|
172850
|
IBIS
|
104 / 7739
|
|
24
|
(HPO:0000737)
|
Irritability |
|
|
172850
|
IBIS
|
93 / 7739
|
|
25
|
(MedDRA:10017349)
|
Free fatty acids increased |
|
|
172850
|
IBIS
|
1 / 7739
|
|
26
|
(HPO:0001522)
|
Death in infancy |
|
|
172850
|
IBIS
|
275 / 7739
|
|
27
|
(MedDRA:10023499)
|
Kussmaul respiration |
|
|
172850
|
IBIS
|
1 / 7739
|
|
28
|
(HPO:0004372)
|
Reduced consciousness/confusion |
|
|
172850
|
IBIS
|
73 / 7739
|
|
29
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
172850
|
IBIS
|
81 / 7739
|
|
30
|
(HPO:0002151)
|
Increased serum lactate |
|
|
172850
|
IBIS
|
92 / 7739
|