|
1
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
2
|
(HPO:0001300)
|
Parkinsonism |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
4
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
5
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
6
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
7
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0002067)
|
Bradykinesia |
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
10
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002451)
|
Limb dystonia |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
14
|
(HPO:0100660)
|
Dyskinesia |
|
|
|
|
19 / 7739
|
|
15
|
(MedDRA:10026863)
|
Masked facies |
|
|
|
|
8 / 7739
|
|
16
|
(OMIM)
|
Ocular flutter |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
18
|
(HPO:0000570)
|
Abnormality of saccadic eye movements |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
20
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
21
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
22
|
(OMIM)
|
Increased CSF homovanillic acid (HVA) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Normal CSF 5-hydroxyindoleacetic acid (5-HIAA) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
26
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|