|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
9760199; 9585615
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0001270)
|
Motor delay |
|
|
9760199; 9585615
|
IBIS
|
322 / 7739
|
|
3
|
(HPO:0001276)
|
Hypertonia |
|
|
9760199
|
IBIS
|
317 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
|
|
9760199
|
IBIS
|
200 / 7739
|
|
5
|
(HPO:0004923)
|
Hyperphenylalaninemia |
|
|
9760199
|
IBIS
|
7 / 7739
|
|
6
|
(HPO:0008297)
|
Transient hyperphenylalaninemia |
|
|
9760199; 16423549
|
IBIS
|
4 / 7739
|
|
7
|
(OMIM)
|
Hypotonia, mild, transient |
|
|
9760199
|
IBIS
|
1 / 7739
|
|
8
|
(OMIM)
|
Hypertonia, mild, transient |
|
|
9760199
|
IBIS
|
1 / 7739
|
|
9
|
(OMIM)
|
Increased urinary 7-biopterin (primapterin) |
|
|
9760199; 16423549
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Increased urinary neopterin |
|
|
9760199
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal CSF neurotransmitters |
|
|
9760199; 22729819
|
IBIS
|
1 / 7739
|
|
12
|
(IBIS)
|
Decreased biopterin in urine |
|
|
9760199
|
IBIS
|
1 / 7739
|
|
13
|
(HPO:0200085)
|
Limb tremor |
|
|
9760199
|
IBIS
|
6 / 7739
|
|
14
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
9585615
|
IBIS
|
77 / 7739
|
|
15
|
(HPO:0002353)
|
EEG abnormality |
|
|
9585615
|
IBIS
|
188 / 7739
|
|
16
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
9760199
|
IBIS
|
9 / 7739
|