|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
9
|
(HPO:0007941)
|
Limited extraocular movements |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
12
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
13
|
(OMIM)
|
Muscle biopsy shows decreased cytochrome c oxidase activity |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Gliosis, necrosis, neuronal loss in basal ganglia, brainstem, and spinal cord |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
MRI may show lesions in basal ganglia, thalamus, and white matter |
|
|
|
|
1 / 7739
|