|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
3
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
4
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0006827)
|
Atrophy of the spinal cord |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0010530)
|
Palatal myoclonus |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
CT and MRI show mild atrophy of the cerebral and cerebellar cortex and severe atrophy of the medulla and spinal cord, with normal pons and olives |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Rhythmic myoclonus of palate, pharynx, larynx, and face |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
10
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|