Symptom Information: Sort according to HPO 

1
(HPO:0002653) Bone pain Occasional [Orphanet] 75 / 7739
2
(HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
3
(HPO:0002027) Abdominal pain Very frequent [Orphanet] 184 / 7739
4
(HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
5
(HPO:0012086) Abnormal urinary color Very frequent [Orphanet] 19 / 7739
6
(HPO:0001409) Portal hypertension Occasional [Orphanet] 39 / 7739
7
(HPO:0100763) Abnormality of the lymphatic system Very frequent [Orphanet] 18 / 7739
8
(HPO:0003119) Abnormality of lipid metabolism Very frequent [Orphanet] 60 / 7739
9
(HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
10
(HPO:0001004) Lymphedema Very frequent [Orphanet] 62 / 7739
11
(HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
12
(HPO:0005248) Intrahepatic biliary atresia Very frequent [Orphanet] 6 / 7739
13
(HPO:0002239) Gastrointestinal hemorrhage Occasional [Orphanet] 97 / 7739
14
(HPO:0001012) Multiple lipomas Frequent [Orphanet] 43 / 7739
15
(HPO:0002017) Nausea and vomiting Very frequent [Orphanet] 134 / 7739
16
(HPO:0001743) Abnormality of the spleen Frequent [Orphanet] 37 / 7739
17
(HPO:0011985) Acholic stools Very frequent [Orphanet] 6 / 7739
18
(HPO:0000952) Jaundice 105 / 7739
19
(HPO:0001055) Erysipelas 6 / 7739
20
(HPO:0001744) Splenomegaly 337 / 7739
21
(HPO:0002024) Malabsorption 142 / 7739
22
(HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
23
(HPO:0002910) Elevated hepatic transaminases 158 / 7739
24
(HPO:0003077) Hyperlipidemia 37 / 7739
25
(HPO:0003155) Elevated alkaline phosphatase 52 / 7739
26
(HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
27
(HPO:0006566) Neonatal cholestatic liver disease 2 / 7739
28
(OMIM) Infantile malabsorption 1 / 7739
29
(OMIM) Elevated serum bile acids 1 / 7739
30
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
31
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739