|
1
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
6
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
8
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
11
|
(HPO:0001946)
|
Ketosis |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
13
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0002883)
|
Hyperventilation |
|
|
|
|
10 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Increased urinary glycerol |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Decreased FBP1 enzyme activity |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|