|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
3939388
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
3939388
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
23570448
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0001264)
|
Spastic diplegia |
|
|
23570448
|
IBIS
|
24 / 7739
|
|
5
|
(HPO:0002353)
|
EEG abnormality |
|
|
23570448
|
IBIS
|
188 / 7739
|
|
6
|
(HPO:0003297)
|
Hyperlysinuria |
|
|
23890588
|
IBIS
|
10 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
23890588
|
IBIS
|
1232 / 7739
|
|
8
|
(OMIM)
|
Citrullinuria |
|
|
23890588
|
IBIS
|
1 / 7739
|
|
9
|
(OMIM)
|
Saccharopinuria |
|
|
10775527
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Aminoadipic semialdehyde-glutamate reductase deficiency |
|
|
23890588
|
IBIS
|
1 / 7739
|
|
11
|
(HPO:0002161)
|
Hyperlysinemia |
|
|
23890588
|
IBIS
|
7 / 7739
|
|
12
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
571908
|
IBIS
|
56 / 7739
|
|
13
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
571908
|
IBIS
|
197 / 7739
|