|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
6
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0002151)
|
Increased serum lactate |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0002305)
|
Athetosis |
|
|
|
|
31 / 7739
|
|
9
|
(OMIM)
|
Decreased mitochondrial complex III activity seen on muscle biopsy |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
14
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
15
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
16
|
(OMIM)
|
Inability to walk independently |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Lack of speech |
|
|
|
|
17 / 7739
|
|
18
|
(OMIM)
|
Brain MRI shows lesions in the basal ganglia |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Decreased mitochondrial complex III activity seen in muscle |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|