|
1
|
(HPO:0004923)
|
Hyperphenylalaninemia |
Very frequent [IBIS]
|
|
22729819
|
IBIS
|
7 / 7739
|
|
2
|
(HPO:0005671)
|
Bilateral intracranial calcifications |
Frequent [IBIS]
|
|
22729819
|
IBIS
|
9 / 7739
|
|
3
|
(HPO:0002353)
|
EEG abnormality |
Frequent [IBIS]
|
|
22729819
|
IBIS
|
188 / 7739
|
|
4
|
(HPO:0001332)
|
Dystonia |
Occasional [IBIS]
|
|
22729819
|
IBIS
|
197 / 7739
|
|
5
|
(OMIM)
|
Uncoordinated movements |
Occasional [IBIS]
|
|
22729819
|
IBIS
|
4 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
1283784
|
IBIS
|
832 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
22729819
|
IBIS
|
1089 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
22729819
|
IBIS
|
853 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
22729819
|
IBIS
|
322 / 7739
|
|
10
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
18060820
|
IBIS
|
114 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
22729819; 18060820
|
IBIS
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
22729819
|
IBIS
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
22729819
|
IBIS
|
859 / 7739
|
|
14
|
(HPO:0001276)
|
Hypertonia |
|
|
22729819
|
IBIS
|
317 / 7739
|
|
15
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
22729819
|
IBIS
|
230 / 7739
|
|
16
|
(HPO:0002307)
|
Drooling |
|
|
6139056
|
IBIS
|
43 / 7739
|
|
17
|
(OMIM)
|
Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF |
|
|
22729819; 18060820
|
IBIS
|
3 / 7739
|
|
18
|
(OMIM)
|
Increased biopterin in urine and CSF |
|
|
1283784; 22729819; 25213568
|
IBIS
|
1 / 7739
|
|
19
|
(OMIM)
|
Decreased or absent dihydropteridine reductase activity |
|
|
22729819; 25213568
|
IBIS
|
1 / 7739
|
|
20
|
(HPO:0012656)
|
Reduced CSF dopamine level |
|
|
22729819
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
22729819
|
IBIS
|
171 / 7739
|
|
22
|
(HPO:0002509)
|
Limb hypertonia |
|
|
22729819
|
IBIS
|
13 / 7739
|
|
23
|
(HPO:0002135)
|
Basal ganglia calcification |
Frequentl [IBIS]
|
|
22729819
|
IBIS
|
37 / 7739
|
|
24
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
22729819; 18060820
|
IBIS
|
7 / 7739
|
|
25
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
1283784; 22729819; 25213568
|
IBIS
|
9 / 7739
|
|
26
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
22729819; 18060820
|
IBIS
|
6 / 7739
|