|
1
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001336)
|
Myoclonus |
rare [HPO:skoehler]
|
|
|
|
115 / 7739
|
|
7
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
9
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
10
|
(HPO:0002066)
|
Gait ataxia |
|
|
|
|
327 / 7739
|
|
11
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
|
|
13 / 7739
|
|
14
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
16
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
17
|
(MedDRA:10026863)
|
Masked facies |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0010553)
|
Oculogyric crisis |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
21
|
(OMIM)
|
Autonomic symptoms |
|
|
|
|
6 / 7739
|
|
22
|
(OMIM)
|
Decreased CSF 3-methoxy-4-hydroxyphenylethyleneglycol (MHPG) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal CSF 5-HIAA |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Decreased activity of tyrosine hydroxylase |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|