|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0001298)
|
Encephalopathy |
|
|
|
|
72 / 7739
|
|
9
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
12
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
13
|
(HPO:0002161)
|
Hyperlysinemia |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0002415)
|
Leukodystrophy |
|
|
|
|
30 / 7739
|
|
15
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0008315)
|
Decreased plasma free carnitine |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
|
|
28 / 7739
|