|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
3
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000989)
|
Pruritus |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0003010)
|
Prolonged bleeding time |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
8
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
9
|
(HPO:0001928)
|
Abnormality of coagulation |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
10
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
11
|
(HPO:0001410)
|
Decreased liver function |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
12
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Frequent [Orphanet]
|
|
|
|
97 / 7739
|
|
13
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
14
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
15
|
(HPO:0001399)
|
Hepatic failure |
|
|
|
|
80 / 7739
|
|
16
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
17
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
18
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
|
21
|
(HPO:0011985)
|
Acholic stools |
|
|
|
|
6 / 7739
|
|
22
|
(HPO:0200084)
|
Giant cell hepatitis |
|
|
|
|
8 / 7739
|
|
23
|
(OMIM)
|
Nonspecific inflammation shown on biopsy |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Fibrosis shown on biopsy |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Progressive liver failure |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Malabsorption of fat and fat-soluble vitamins |
|
|
|
|
7 / 7739
|
|
27
|
(OMIM)
|
Coagulopathy secondary to liver disease |
|
|
|
|
4 / 7739
|
|
28
|
(OMIM)
|
Increased serum bilirubin |
|
|
|
|
4 / 7739
|
|
29
|
(OMIM)
|
Decreased serum cholesterol |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Normal serum levels of gamma-GGT (231950) |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
32
|
(HPO:0000504)
|
Abnormality of vision |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
|
33
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
|
36
|
(HPO:0003146)
|
Hypocholesterolemia |
|
|
|
|
9 / 7739
|
|
37
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|