|
1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
3
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
4
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
14
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
9194444
|
IBIS
|
21 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0100729)
|
Large face |
|
|
|
|
19 / 7739
|