|
1
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
2
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
3
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
5
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
|
|
|
|
7 / 7739
|
|
6
|
(OMIM)
|
Occasional tonic-clonic seizures |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Lesion of cerebellar dentate nucleus |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Degeneration of globus pallidus |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Elevated cerebrospinal fluid uric acid |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Ragged-red fibers on muscle biopsy |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
12
|
(HPO:0002197)
|
Generalized seizures |
Occasional [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
13
|
(HPO:0007132)
|
Pallidal degeneration |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0100321)
|
Abnormality of the dentate nucleus |
|
|
|
|
3 / 7739
|