|
1
|
(HPO:0004923)
|
Hyperphenylalaninemia |
Very frequent [IBIS]
|
|
22729819
|
IBIS
|
7 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
18060820
|
IBIS
|
832 / 7739
|
|
3
|
(HPO:0000737)
|
Irritability |
|
|
18060820
|
IBIS
|
93 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
22729819
|
IBIS
|
1245 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
18060820
|
IBIS
|
413 / 7739
|
|
6
|
(HPO:0002066)
|
Gait ataxia |
|
|
18060820
|
IBIS
|
327 / 7739
|
|
7
|
(HPO:0002311)
|
Incoordination |
|
|
20059486; 22729819
|
IBIS
|
84 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
20059486
|
IBIS
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
20059486
|
IBIS
|
853 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
20059486
|
IBIS
|
322 / 7739
|
|
11
|
(HPO:0001266)
|
Choreoathetosis |
|
|
16161143; 18060820
|
IBIS
|
57 / 7739
|
|
12
|
(HPO:0001300)
|
Parkinsonism |
|
|
20059486
|
IBIS
|
75 / 7739
|
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
16161143; 22729819
|
IBIS
|
197 / 7739
|
|
14
|
(HPO:0001337)
|
Tremor |
|
|
20059486
|
IBIS
|
200 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
|
|
18060820
|
IBIS
|
363 / 7739
|
|
16
|
(HPO:0001518)
|
Small for gestational age |
|
|
18060820; 22729819
|
IBIS
|
107 / 7739
|
|
17
|
(HPO:0001954)
|
Episodic fever |
|
|
18060820
|
IBIS
|
27 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
16850690
|
IBIS
|
301 / 7739
|
|
19
|
(HPO:0002033)
|
Poor suck |
|
|
18060820
|
IBIS
|
37 / 7739
|
|
20
|
(HPO:0002063)
|
Rigidity |
|
|
20059486
|
IBIS
|
92 / 7739
|
|
21
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
20059486
|
IBIS
|
27 / 7739
|
|
22
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
20059486
|
IBIS
|
68 / 7739
|
|
23
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
18060820; 20059486
|
IBIS
|
77 / 7739
|
|
24
|
(HPO:0010553)
|
Oculogyric crisis |
|
|
20059486
|
IBIS
|
5 / 7739
|
|
25
|
(HPO:0003781)
|
Excessive salivation |
|
|
18060820
|
IBIS
|
15 / 7739
|
|
26
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
16767663
|
IBIS
|
76 / 7739
|
|
27
|
(OMIM)
|
Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF |
|
|
20059486
|
IBIS
|
3 / 7739
|
|
28
|
(OMIM)
|
Increased neopterin in urine and CSF |
|
|
20059486
|
IBIS
|
1 / 7739
|
|
29
|
(OMIM)
|
Decreased or absent PTS activity |
|
|
20059486; 22729819; 3276524
|
IBIS
|
1 / 7739
|
|
30
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
22729819
|
IBIS
|
990 / 7739
|
|
31
|
(HPO:0001276)
|
Hypertonia |
|
|
22729819
|
IBIS
|
317 / 7739
|
|
32
|
(HPO:0002172)
|
Postural instability |
|
|
18060820
|
IBIS
|
22 / 7739
|
|
33
|
(HPO:0002045)
|
Hypothermia |
|
|
18060820
|
IBIS
|
27 / 7739
|
|
34
|
(HPO:0002329)
|
Drowsiness |
|
|
18060820
|
IBIS
|
19 / 7739
|
|
35
|
(HPO:0002375)
|
Hypokinesia |
|
|
18060820; 20059486
|
IBIS
|
25 / 7739
|
|
36
|
(HPO:0000870)
|
Prolactin excess |
|
|
20059486
|
IBIS
|
10 / 7739
|
|
37
|
(HPO:0002360)
|
Sleep disturbance |
|
|
20059486
|
IBIS
|
113 / 7739
|
|
38
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
20059486
|
IBIS
|
9 / 7739
|
|
39
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
20059486
|
IBIS
|
6 / 7739
|