|
1
|
(HPO:0000473)
|
Torticollis |
|
|
15390021
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0001300)
|
Parkinsonism |
|
|
15390021
|
IBIS
|
75 / 7739
|
|
3
|
(HPO:0001347)
|
Hyperreflexia |
|
|
17368676
|
IBIS
|
363 / 7739
|
|
4
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
17368676
|
IBIS
|
33 / 7739
|
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
15390021
|
IBIS
|
309 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
15390021
|
IBIS
|
327 / 7739
|
|
7
|
(HPO:0002174)
|
Postural tremor |
|
|
15390021
|
IBIS
|
22 / 7739
|
|
8
|
(HPO:0002356)
|
Writer's cramp |
|
|
15390021
|
IBIS
|
16 / 7739
|
|
9
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
15390021
|
IBIS
|
13 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
15390021
|
IBIS
|
705 / 7739
|
|
11
|
(HPO:0003487)
|
Babinski sign |
|
|
17368676
|
IBIS
|
179 / 7739
|
|
12
|
(HPO:0008297)
|
Transient hyperphenylalaninemia |
|
|
16624273
|
IBIS
|
4 / 7739
|
|
13
|
(OMIM)
|
Postural dystonia (onset is restricted to 1 extremity, usually lower, with foot dystonia) |
|
|
15390021
|
IBIS
|
1 / 7739
|
|
14
|
(OMIM)
|
Action dystonia |
|
|
21556877
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0004373)
|
Focal dystonia |
|
|
15390021
|
IBIS
|
9 / 7739
|
|
16
|
(HPO:0001288)
|
Gait disturbance |
|
|
15390021
|
IBIS
|
318 / 7739
|
|
17
|
(OMIM)
|
Asymmetry of symptoms |
|
|
15390021
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased tetrahydrobiopterin (BH4) in CSF |
|
|
17368676; 21556877
|
IBIS
|
1 / 7739
|
|
19
|
(OMIM)
|
5-HIAA CSF may be normal or decreased |
|
|
12391354
|
IBIS
|
2 / 7739
|
|
20
|
(OMIM)
|
Decreased GTP cyclohydrolase I activity (about 20% of normal) |
|
|
15303002; 21556877
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
17368676
|
IBIS
|
77 / 7739
|
|
22
|
(HPO:0002307)
|
Drooling |
|
|
17368676
|
IBIS
|
43 / 7739
|
|
23
|
(HPO:0002063)
|
Rigidity |
|
|
17368676
|
IBIS
|
92 / 7739
|
|
24
|
(HPO:0100022)
|
Abnormality of movement |
|
|
17368676
|
IBIS
|
129 / 7739
|
|
25
|
(HPO:0002067)
|
Bradykinesia |
|
|
17368676; 15390021
|
IBIS
|
62 / 7739
|
|
26
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
15390021
|
IBIS
|
73 / 7739
|
|
27
|
(HPO:0100710)
|
Impulsivity |
|
|
21556877
|
IBIS
|
16 / 7739
|
|
28
|
(HPO:0100543)
|
Cognitive impairment |
|
|
21556877
|
IBIS
|
230 / 7739
|
|
29
|
(HPO:0000870)
|
Prolactin excess |
|
|
12391354
|
IBIS
|
10 / 7739
|
|
30
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
17368676
|
IBIS
|
6 / 7739
|
|
31
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
17368676
|
IBIS
|
7 / 7739
|