|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
9
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
10
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
|
|
34 / 7739
|
|
11
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|
|
12
|
(OMIM)
|
Increased serum and urinary lactate |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Increased urinary 2-hydroxybutyrate |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Increased serum glycine, leucine, isoleucine, valine |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Decreased activity of pyruvate dehydrogenase complex |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Decreased activity of 2-oxoacid dehydrogenases |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
19
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|