|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
11
|
(HPO:0002181)
|
Cerebral edema |
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0003108)
|
Hyperglycinuria |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0003234)
|
Decreased plasma carnitine |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0008309)
|
Medium chain dicarboxylic aciduria |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Developmental delay if undiagnosed or untreated |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
20
|
(OMIM)
|
Absent to trace urine and plasma ketones |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Mild metabolic acidosis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Mildly elevated blood ammonia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Acylglycinuria |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Deficiency of medium-chain acyl-CoA dehydrogenase |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|