|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
5
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
6
|
(OMIM)
|
Hypertrophic cardiomyopathy, biventricular |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Glycogen deposition |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Markedly decreased cytochrome c oxidase activity |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
12
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
13
|
(OMIM)
|
Increased intermyofibrillar and subsarcolemmal glycogen |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Mildly decreased cytochrome c oxidase activity |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0004898)
|
Persistent lactic acidosis |
|
|
|
|
3 / 7739
|