|
1
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
18276179
|
IBIS
|
79 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
22729819; 18276179
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
22473768
|
IBIS
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
22729819; 18276179
|
IBIS
|
853 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
20818608; 18276179
|
IBIS
|
322 / 7739
|
|
6
|
(HPO:0001332)
|
Dystonia |
|
|
15303002; 12552057
|
IBIS
|
197 / 7739
|
|
7
|
(HPO:0001337)
|
Tremor |
|
|
20818608; 18276179
|
IBIS
|
200 / 7739
|
|
8
|
(HPO:0002063)
|
Rigidity |
|
|
15303002
|
IBIS
|
92 / 7739
|
|
9
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
18276179; 22729819
|
IBIS
|
27 / 7739
|
|
10
|
(HPO:0002487)
|
Hyperkinesis |
|
|
15303002
|
IBIS
|
7 / 7739
|
|
11
|
(HPO:0002509)
|
Limb hypertonia |
|
|
20818608
|
IBIS
|
13 / 7739
|
|
12
|
(HPO:0004923)
|
Hyperphenylalaninemia |
|
|
22729819; 18276179
|
IBIS
|
7 / 7739
|
|
13
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
22729819
|
IBIS
|
29 / 7739
|
|
14
|
(HPO:0002307)
|
Drooling |
|
|
18276179
|
IBIS
|
43 / 7739
|
|
15
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
20818608
|
IBIS
|
77 / 7739
|
|
16
|
(OMIM)
|
[DEL]Hypertonia of the extremities |
|
|
20818608
|
IBIS
|
3 / 7739
|
|
17
|
(OMIM)
|
Uncoordinated movements |
|
|
22729819
|
IBIS
|
4 / 7739
|
|
18
|
(OMIM)
|
Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF |
|
|
20818608; 22473768
|
IBIS
|
3 / 7739
|
|
19
|
(OMIM)
|
Decreased neopterin and biopterin in urine |
|
|
20818608
|
IBIS
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased neopterin and biopterin in CSF |
|
|
20818608; 18276179; 22473768
|
IBIS
|
1 / 7739
|
|
21
|
(OMIM)
|
Decreased or absent GCH1 activity |
|
|
22729819; 20818608; 22473768
|
IBIS
|
1 / 7739
|
|
22
|
(HPO:0008297)
|
Transient hyperphenylalaninemia |
|
|
18276179
|
IBIS
|
4 / 7739
|
|
23
|
(OMIM)
|
5-HIAA CSF may be normal or decreased |
|
|
18276179
|
IBIS
|
2 / 7739
|
|
24
|
(HPO:0010553)
|
Oculogyric crisis |
|
|
18276179
|
IBIS
|
5 / 7739
|
|
25
|
(HPO:0002191)
|
Progressive spasticity |
|
|
18276179
|
IBIS
|
12 / 7739
|
|
26
|
(HPO:0002033)
|
Poor suck |
|
|
18276179
|
IBIS
|
37 / 7739
|
|
27
|
(HPO:0002360)
|
Sleep disturbance |
|
|
18276179
|
IBIS
|
113 / 7739
|
|
28
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
18276179
|
IBIS
|
37 / 7739
|
|
29
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
15303002; 20818608; 18276179
|
IBIS
|
13 / 7739
|
|
30
|
(HPO:0002179)
|
Opisthotonus |
|
|
22473768
|
IBIS
|
35 / 7739
|
|
31
|
(HPO:0001336)
|
Myoclonus |
|
|
22473768
|
IBIS
|
115 / 7739
|
|
32
|
(HPO:0004372)
|
Reduced consciousness/confusion |
|
|
22473768
|
IBIS
|
73 / 7739
|
|
33
|
(HPO:0100543)
|
Cognitive impairment |
|
|
22473768
|
IBIS
|
230 / 7739
|
|
34
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
18276179
|
IBIS
|
153 / 7739
|
|
35
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
20818608
|
IBIS
|
9 / 7739
|
|
36
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
20818608; 18276179; 22473768
|
IBIS
|
6 / 7739
|
|
37
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
20818608
|
IBIS
|
7 / 7739
|