|
1
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
23622399
|
IBIS
|
45 / 7739
|
|
2
|
(HPO:0004920)
|
Phenylpyruvic acidemia |
Very frequent [IBIS]
|
|
23622399
|
IBIS
|
3 / 7739
|
|
3
|
(HPO:0004923)
|
Hyperphenylalaninemia |
Very frequent [IBIS]
|
|
23622399
|
IBIS
|
7 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
|
23622399
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
Frequent [IBIS]
|
|
26425393
|
IBIS
|
20 / 7739
|
|
6
|
(HPO:0010994)
|
Abnormality of the striatum |
Frequent [IBIS]
|
|
26425393
|
IBIS
|
2 / 7739
|
|
7
|
(HPO:0003429)
|
CNS hypomyelination |
Frequent [IBIS]
|
|
26425393
|
IBIS
|
21 / 7739
|
|
8
|
(HPO:0002180)
|
Neurodegeneration |
Frequent [IBIS]
|
|
26425393
|
IBIS
|
31 / 7739
|
|
9
|
(HPO:0012099)
|
Abnormality of circulating catecholamine level |
Frequent [IBIS]
|
|
26425393
|
IBIS
|
2 / 7739
|
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
11
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
12
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
14
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
16
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
17
|
(HPO:0001218)
|
Autoamputation |
|
|
|
|
10 / 7739
|
|
18
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|
|
19
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
|
|
|
|
35 / 7739
|
|
20
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
21
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
22
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
23
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
24
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
25
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
26
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0005982)
|
Reduced phenylalanine hydroxylase activity |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
29
|
(HPO:0007513)
|
Generalized hypopigmentation |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0100324)
|
Scleroderma |
|
|
|
|
6 / 7739
|
|
31
|
(OMIM)
|
[DEL]Decreased mental processing speed |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Infantile irritability |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
[DEL]Peculiar gait (if left untreated) |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Peculiar stance and sitting posture (if left untreated) |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
[DEL]Limb posturing (if left untreated) |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Purposeless movements (if left untreated) |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
38
|
(OMIM)
|
[DEL]Defective myelin formation (if left untreated) |
|
|
|
|
2 / 7739
|
|
39
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
40
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
41
|
(OMIM)
|
[DEL]Social sensitivity |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0000716)
|
Depression |
|
|
|
|
99 / 7739
|
|
43
|
(OMIM)
|
Defects in executive function |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
[DEL] Maternal hyperphenylalaninemia teratogenic |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Increased urinary o-hydroxyphenylacetic acid, phenylpyruvic acid, phenylacetic acid and phenylacetylglutamine |
|
|
|
|
2 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
23622399
|
IBIS
|
949 / 7739
|