|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
23157991
|
IBIS
|
832 / 7739
|
|
2
|
(HPO:0000709)
|
Psychosis |
|
|
23157991
|
IBIS
|
61 / 7739
|
|
3
|
(HPO:0000718)
|
Aggressive behavior |
|
|
23157991
|
IBIS
|
109 / 7739
|
|
4
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
12955819
|
IBIS
|
43 / 7739
|
|
5
|
(HPO:0000737)
|
Irritability |
|
|
23157991
|
IBIS
|
93 / 7739
|
|
6
|
(HPO:0000739)
|
Anxiety |
|
|
23157991
|
IBIS
|
67 / 7739
|
|
7
|
(HPO:0000964)
|
Eczema |
|
|
9888332
|
IBIS
|
81 / 7739
|
|
8
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
19718821
|
IBIS
|
20 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
22205310
|
IBIS
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
18566668
|
IBIS
|
853 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
18566668
|
IBIS
|
322 / 7739
|
|
12
|
(HPO:0001250)
|
Seizures |
|
|
23157991
|
IBIS
|
1245 / 7739
|
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
10067268
|
IBIS
|
363 / 7739
|
|
14
|
(HPO:0002514)
|
Cerebral calcification |
|
|
3344778
|
IBIS
|
89 / 7739
|
|
15
|
(HPO:0003355)
|
Aminoaciduria |
|
|
4025205
|
IBIS
|
65 / 7739
|
|
16
|
(HPO:0004920)
|
Phenylpyruvic acidemia |
|
|
4025205
|
IBIS
|
3 / 7739
|
|
17
|
(HPO:0004923)
|
Hyperphenylalaninemia |
|
|
22205310
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0005982)
|
Reduced phenylalanine hydroxylase activity |
|
|
22205310
|
IBIS
|
2 / 7739
|
|
19
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
23157991
|
IBIS
|
56 / 7739
|
|
20
|
(HPO:0001010)
|
Hypopigmentation of the skin |
|
|
19788584
|
IBIS
|
46 / 7739
|
|
21
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
19788584
|
IBIS
|
12 / 7739
|
|
22
|
(HPO:0100543)
|
Cognitive impairment |
|
|
24485821
|
IBIS
|
230 / 7739
|
|
23
|
(HPO:0100610)
|
Maternal hyperphenylalaninemia |
|
|
22205310
|
IBIS
|
1 / 7739
|
|
24
|
(HPO:0000752)
|
Hyperactivity |
|
|
24140048
|
IBIS
|
140 / 7739
|
|
25
|
(HPO:0000716)
|
Depression |
|
|
20971365
|
IBIS
|
99 / 7739
|
|
26
|
(OMIM)
|
Defects in executive function |
|
|
20971365
|
IBIS
|
2 / 7739
|
|
27
|
(OMIM)
|
Increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine |
|
|
4025205
|
IBIS
|
2 / 7739
|
|
28
|
(HPO:0005268)
|
Spontaneous abortion |
|
|
19557660
|
IBIS
|
15 / 7739
|
|
29
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
19557660
|
IBIS
|
358 / 7739
|
|
30
|
(HPO:0010948)
|
Abnormality of the fetal cardiovascular system |
|
|
19557660
|
IBIS
|
1 / 7739
|
|
31
|
(HPO:0001197)
|
Abnormality of prenatal development or birth |
|
|
22205310
|
IBIS
|
9 / 7739
|
|
32
|
(HPO:0012447)
|
Abnormal myelination |
|
|
23157991
|
IBIS
|
7 / 7739
|
|
33
|
(HPO:0001288)
|
Gait disturbance |
|
|
11723206
|
IBIS
|
318 / 7739
|
|
34
|
(HPO:0003110)
|
Abnormality of urine homeostasis |
|
|
4025205
|
IBIS
|
9 / 7739
|
|
35
|
(HPO:0000729)
|
Autistic behavior |
|
|
23921282
|
IBIS
|
27 / 7739
|
|
36
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
20971365
|
IBIS
|
7 / 7739
|