|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
23570448
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
23570448
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
23570448
|
IBIS
|
322 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
23570448
|
IBIS
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
23570448
|
IBIS
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
571908
|
IBIS
|
859 / 7739
|
|
7
|
(HPO:0002161)
|
Hyperlysinemia |
|
|
23570448
|
IBIS
|
7 / 7739
|
|
8
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
23570448
|
IBIS
|
482 / 7739
|
|
9
|
(OMIM)
|
Lysine-ketoglutarate reductase deficiency |
|
|
23570448
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Saccharopine dehydrogenase deficiency |
|
|
23570448
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Aminoadipic semialdehyde synthase (AASS) deficiency |
|
|
23570448
|
IBIS
|
1 / 7739
|
|
12
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
23570448
|
IBIS
|
101 / 7739
|
|
13
|
(HPO:0002013)
|
Vomiting |
|
|
23570448
|
IBIS
|
191 / 7739
|
|
14
|
(HPO:0001508)
|
Failure to thrive |
|
|
23570448
|
IBIS
|
454 / 7739
|
|
15
|
(HPO:0001363)
|
Craniosynostosis |
|
|
23570448
|
IBIS
|
132 / 7739
|
|
16
|
(HPO:0000252)
|
Microcephaly |
|
|
23570448
|
IBIS
|
832 / 7739
|
|
17
|
(HPO:0002273)
|
Tetraparesis |
|
|
23570448
|
IBIS
|
15 / 7739
|
|
18
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
23570448
|
IBIS
|
197 / 7739
|
|
19
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
23570448
|
IBIS
|
212 / 7739
|
|
20
|
(HPO:0011097)
|
Epileptic spasms |
|
|
23570448
|
IBIS
|
45 / 7739
|
|
21
|
(HPO:0000319)
|
Smooth philtrum |
|
|
23570448
|
IBIS
|
72 / 7739
|
|
22
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
23570448
|
IBIS
|
76 / 7739
|
|
23
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
23570448
|
IBIS
|
85 / 7739
|
|
24
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
23890588
|
IBIS
|
56 / 7739
|
|
25
|
(HPO:0002312)
|
Clumsiness |
|
|
23890588
|
IBIS
|
28 / 7739
|
|
26
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
23890588
|
IBIS
|
40 / 7739
|
|
27
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
23890588
|
IBIS
|
26 / 7739
|
|
28
|
(HPO:0001337)
|
Tremor |
|
|
23890588
|
IBIS
|
200 / 7739
|
|
29
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
23570448
|
IBIS
|
21 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
|
|
23890588
|
IBIS
|
1232 / 7739
|
|
31
|
(OMIM)
|
Serum pipecolic acid elevated |
|
|
23890588
|
IBIS
|
2 / 7739
|
|
32
|
(HPO:0002353)
|
EEG abnormality |
|
|
23890588
|
IBIS
|
188 / 7739
|
|
33
|
(HPO:0003297)
|
Hyperlysinuria |
|
|
23890588
|
IBIS
|
10 / 7739
|
|
34
|
(OMIM)
|
Homocitrullinuria |
|
|
23890588
|
IBIS
|
2 / 7739
|
|
35
|
(HPO:0001264)
|
Spastic diplegia |
|
|
23570448
|
IBIS
|
24 / 7739
|