|
1
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0000267)
|
Cranial asymmetry |
|
|
|
|
6 / 7739
|
|
3
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
4
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
5
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
11
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
13
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
|
|
|
|
38 / 7739
|
|
14
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
|
15
|
(HPO:0007305)
|
CNS demyelination |
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0009553)
|
Abnormality of the hairline |
|
|
|
|
30 / 7739
|
|
17
|
(HPO:0011398)
|
Central hypotonia |
|
|
|
|
12 / 7739
|