|
1
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
2
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
5
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0002174)
|
Postural tremor |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0002544)
|
Retrocollis |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0012049)
|
Laryngeal dystonia |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0012514)
|
Lower limb pain |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Oromandibular dyskinesia |
|
|
|
|
2 / 7739
|
|
16
|
(MedDRA:10061991)
|
Grimacing |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
18
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
19
|
(OMIM)
|
Upper limb dystonia |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
21
|
(OMIM)
|
Opisthotonic posturing |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
24
|
(HPO:0004305)
|
Involuntary movements |
|
|
|
|
50 / 7739
|
|
25
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|