|
1
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
4
|
(HPO:0000726)
|
Dementia |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0001112)
|
Leber optic atrophy |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
13
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0002493)
|
Upper motor neuron dysfunction |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
18
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
19
|
(OMIM)
|
Normal cognition |
|
|
|
|
7 / 7739
|
|
20
|
(OMIM)
|
Bulbar dysfunction |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Bilateral striatal lucencies on imaging |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Increased serum and CSF lactate |
|
|
|
|
7 / 7739
|
|
23
|
(OMIM)
|
Decreased mitochondrial complex I activity |
|
|
|
|
2 / 7739
|