|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001289)
|
Confusion |
|
|
|
|
36 / 7739
|
|
8
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
11
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
12
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
15
|
(HPO:0002300)
|
Mutism |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0002385)
|
Paraparesis |
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0002540)
|
Inability to walk |
|
|
|
|
19 / 7739
|
|
18
|
(OMIM)
|
Facial dystonia |
|
|
|
|
6 / 7739
|
|
19
|
(MedDRA:10056696)
|
Gaze palsy |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Encephalopathy, subacute |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
22
|
(OMIM)
|
Brain MRI shows basal ganglia lesions |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Cortical and subcortical hyperintensities |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
27
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
29
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
30
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
31
|
(HPO:0012179)
|
Craniofacial dystonia |
|
|
|
|
4 / 7739
|