|
1
|
(HPO:0001250)
|
Seizures |
|
|
11916315
|
IBIS
|
1245 / 7739
|
|
2
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
11916315
|
IBIS
|
141 / 7739
|
|
3
|
(HPO:0003161)
|
4-Hydroxyphenylpyruvic aciduria |
|
|
23036342
|
IBIS
|
4 / 7739
|
|
4
|
(HPO:0003231)
|
Hypertyrosinemia |
|
|
23036342
|
IBIS
|
8 / 7739
|
|
5
|
(HPO:0003607)
|
4-Hydroxyphenylacetic aciduria |
|
|
23036342
|
IBIS
|
3 / 7739
|
|
6
|
(OMIM)
|
Normal liver function |
|
|
16602095
|
IBIS
|
1 / 7739
|
|
7
|
(OMIM)
|
4-hydroxyphenyllactic aciduria |
|
|
23036342
|
IBIS
|
1 / 7739
|
|
8
|
(HPO:0003637)
|
Reduced 4-Hydroxyphenylpyruvate dioxygenase activity |
|
|
23036342
|
IBIS
|
3 / 7739
|
|
9
|
(HPO:0001328)
|
Specific learning disability |
|
|
11916315
|
IBIS
|
114 / 7739
|
|
10
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
11916315
|
IBIS
|
56 / 7739
|
|
11
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
11916315
|
IBIS
|
212 / 7739
|
|
12
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
11916315
|
IBIS
|
73 / 7739
|
|
13
|
(HPO:0000252)
|
Microcephaly |
|
|
11916315
|
IBIS
|
832 / 7739
|
|
14
|
(HPO:0001251)
|
Ataxia |
|
|
11916315
|
IBIS
|
413 / 7739
|
|
15
|
(HPO:0001337)
|
Tremor |
|
|
11916315
|
IBIS
|
200 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
11916315
|
IBIS
|
990 / 7739
|
|
17
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23036342
|
IBIS
|
160 / 7739
|