|
1
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
2
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
6
|
(HPO:0002024)
|
Malabsorption |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
8
|
(HPO:0002383)
|
Encephalitis |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0003011)
|
Abnormality of the musculature |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
10
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
12
|
(HPO:0001396)
|
Cholestasis |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
13
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
18
|
(HPO:0002630)
|
Fat malabsorption |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
20
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
21
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
22
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|
|
23
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
|
24
|
(HPO:0200084)
|
Giant cell hepatitis |
|
|
|
|
8 / 7739
|