|
1
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
2
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
6
|
(HPO:0002503)
|
Spinocerebellar tract degeneration |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
8
|
(OMIM)
|
Slow eye movements |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Progressive intellectual impairment |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
11
|
(OMIM)
|
Nonspecific mitochondrial abnormalities on muscle biopsy |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0000514)
|
Slow saccadic eye movements |
|
|
|
|
21 / 7739
|