|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
5
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
7
|
(HPO:0001985)
|
Hypoketotic hypoglycemia |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0002173)
|
Hypoglycemic seizures |
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0002605)
|
Hepatic necrosis |
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0002913)
|
Myoglobinuria |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0003215)
|
Dicarboxylic aciduria |
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0004448)
|
Fulminant hepatic failure |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0006929)
|
Hypoglycemic encephalopathy |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|