|
1
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
2
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
3
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
4
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
8
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
9
|
(OMIM)
|
Ataxic movements |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Increased urinary ketones |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased activity of cytosolic acetoacetyl-CoA thiolase (ACAT2, 100678) |
|
|
|
|
1 / 7739
|