1
|
(HPO:0000252)
|
Microcephaly |
|
|
22522443
|
IBIS
|
832 / 7739
|
2
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
22522443
|
IBIS
|
54 / 7739
|
3
|
(HPO:0000718)
|
Aggressive behavior |
|
|
22522443
|
IBIS
|
109 / 7739
|
4
|
(HPO:0000752)
|
Hyperactivity |
|
|
22522443
|
IBIS
|
140 / 7739
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
16049044; 22522443
|
IBIS
|
1089 / 7739
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
16650784
|
IBIS
|
853 / 7739
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
23430877
|
IBIS
|
322 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
|
|
22522443
|
IBIS
|
1245 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
16650784
|
IBIS
|
413 / 7739
|
10
|
(HPO:0001257)
|
Spasticity |
|
|
16650784
|
IBIS
|
251 / 7739
|
11
|
(HPO:0001260)
|
Dysarthria |
|
|
23430877; 22522443
|
IBIS
|
329 / 7739
|
12
|
(HPO:0001266)
|
Choreoathetosis |
|
|
16049044; 22522443
|
IBIS
|
57 / 7739
|
13
|
(HPO:0001332)
|
Dystonia |
|
|
24588500; 16650784
|
IBIS
|
197 / 7739
|
14
|
(HPO:0001337)
|
Tremor |
|
|
16049044; 22522443
|
IBIS
|
200 / 7739
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
22522443
|
IBIS
|
454 / 7739
|
16
|
(HPO:0001510)
|
Growth delay |
|
|
22522443
|
IBIS
|
295 / 7739
|
17
|
(HPO:0002360)
|
Sleep disturbance |
|
|
22522443
|
IBIS
|
113 / 7739
|
18
|
(HPO:0008297)
|
Transient hyperphenylalaninemia |
|
|
16650784; 22522443
|
IBIS
|
4 / 7739
|
19
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
16650784
|
IBIS
|
77 / 7739
|
20
|
(HPO:0010553)
|
Oculogyric crisis |
|
|
24588500; 22522443
|
IBIS
|
5 / 7739
|
21
|
(OMIM)
|
Autonomic signs |
|
|
22522443
|
IBIS
|
1 / 7739
|
22
|
(OMIM)
|
Sepiapterin reductase deficiency (fibroblasts) |
|
|
23430877
|
IBIS
|
1 / 7739
|
23
|
(OMIM)
|
Decreased 5-hydroxyindoleacetic acid (5-HIAA) in CSF |
|
|
24588500; 16650784
|
IBIS
|
1 / 7739
|
24
|
(OMIM)
|
Elevated sepiapterin in CSF |
|
|
24588500; 16650784
|
IBIS
|
1 / 7739
|
25
|
(OMIM)
|
Elevated biopterin in CSF |
|
|
16650784
|
IBIS
|
1 / 7739
|
26
|
(OMIM)
|
Elevated dihydrobiopterin in CSF |
|
|
24588500
|
IBIS
|
1 / 7739
|
27
|
(OMIM)
|
Decreased urinary HVA, 5-HIAA, and vanillyl mandelic acid (VMA) |
|
|
22522443
|
IBIS
|
1 / 7739
|
28
|
(OMIM)
|
Normal urinary pterins |
|
|
16650784
|
IBIS
|
1 / 7739
|
29
|
(OMIM)
|
No hyperphenylalaninemia |
|
|
16650784
|
IBIS
|
1 / 7739
|
30
|
(HPO:0002483)
|
Bulbar signs |
|
|
16049044
|
IBIS
|
9 / 7739
|
31
|
(HPO:0100786)
|
Hypersomnia |
|
|
24588500
|
IBIS
|
4 / 7739
|
32
|
(HPO:0000870)
|
Prolactin excess |
|
|
24588500
|
IBIS
|
10 / 7739
|
33
|
(HPO:0002548)
|
Parkinsonism with favorable response to dopaminergic medication |
|
|
22522443
|
IBIS
|
13 / 7739
|
34
|
(HPO:0001347)
|
Hyperreflexia |
|
|
22522443
|
IBIS
|
363 / 7739
|
35
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
22522443
|
IBIS
|
79 / 7739
|
36
|
(HPO:0002307)
|
Drooling |
|
|
22522443
|
IBIS
|
43 / 7739
|
37
|
(HPO:0002015)
|
Dysphagia |
|
|
22522443
|
IBIS
|
301 / 7739
|
38
|
(HPO:0001265)
|
Hyporeflexia |
|
|
22522443
|
IBIS
|
208 / 7739
|
39
|
(HPO:0002650)
|
Scoliosis |
|
|
22522443
|
IBIS
|
705 / 7739
|
40
|
(HPO:0012049)
|
Laryngeal dystonia |
|
|
22522443
|
IBIS
|
7 / 7739
|
41
|
(HPO:0002591)
|
Polyphagia |
|
|
22522443
|
IBIS
|
25 / 7739
|
42
|
(HPO:0001336)
|
Myoclonus |
|
|
22522443
|
IBIS
|
115 / 7739
|
43
|
(HPO:0000858)
|
Menstrual irregularities |
|
|
22522443
|
IBIS
|
42 / 7739
|
44
|
(HPO:0002019)
|
Constipation |
|
|
22522443
|
IBIS
|
194 / 7739
|
45
|
(HPO:0000518)
|
Cataract |
|
|
22522443
|
IBIS
|
454 / 7739
|
46
|
(HPO:0002216)
|
Premature graying of hair |
|
|
22522443
|
IBIS
|
43 / 7739
|
47
|
(HPO:0002067)
|
Bradykinesia |
|
|
22522443
|
IBIS
|
62 / 7739
|
48
|
(HPO:0002063)
|
Rigidity |
|
|
22522443
|
IBIS
|
92 / 7739
|
49
|
(HPO:0000737)
|
Irritability |
|
|
22522443
|
IBIS
|
93 / 7739
|
50
|
(HPO:0000739)
|
Anxiety |
|
|
22522443
|
IBIS
|
67 / 7739
|
51
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
22522443
|
IBIS
|
35 / 7739
|
52
|
(HPO:0000716)
|
Depression |
|
|
22522443
|
IBIS
|
99 / 7739
|
53
|
(HPO:0100710)
|
Impulsivity |
|
|
22522443
|
IBIS
|
16 / 7739
|
54
|
(MedDRA:10013510)
|
Disturbances in initiating and maintaining sleep |
|
|
22522443
|
IBIS
|
1 / 7739
|
55
|
(HPO:0002329)
|
Drowsiness |
|
|
22522443
|
IBIS
|
19 / 7739
|
56
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
22522443
|
IBIS
|
64 / 7739
|
57
|
(HPO:0000508)
|
Ptosis |
|
|
22522443
|
IBIS
|
459 / 7739
|
58
|
(HPO:0012384)
|
Rhinitis |
|
|
22522443
|
IBIS
|
18 / 7739
|
59
|
(HPO:0005968)
|
Temperature instability |
|
|
22522443
|
IBIS
|
5 / 7739
|
60
|
(HPO:0002572)
|
Episodic vomiting |
|
|
22522443
|
IBIS
|
12 / 7739
|
61
|
(HPO:0000486)
|
Strabismus |
|
|
22522443
|
IBIS
|
576 / 7739
|
62
|
(HPO:0000639)
|
Nystagmus |
|
|
22522443
|
IBIS
|
555 / 7739
|
63
|
(MedDRA:10047924)
|
Wheezing |
|
|
22522443
|
IBIS
|
8 / 7739
|
64
|
(HPO:0003785)
|
Decreased CSF homovanillic acid |
|
|
24588500; 16650784
|
IBIS
|
7 / 7739
|
65
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
24588500
|
IBIS
|
6 / 7739
|
66
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
22522443
|
IBIS
|
9 / 7739
|