Symptom Information: Sort according to HPO 

1
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
2
 (HPO:0002570) Steatorrhea 31 / 7739
3
 (HPO:0002612) Congenital hepatic fibrosis Frequent [Orphanet] 16 / 7739
4
 (HPO:0000989) Pruritus Occasional [Orphanet] 111 / 7739
5
 (HPO:0001394) Cirrhosis Occasional [Orphanet] 102 / 7739
6
 (HPO:0001744) Splenomegaly Frequent [Orphanet] 337 / 7739
7
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
8
 (HPO:0000834) Abnormality of the adrenal glands Occasional [Orphanet] 14 / 7739
9
 (HPO:0001012) Multiple lipomas Frequent [Orphanet] 43 / 7739
10
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
11
 (HPO:0002013) Vomiting 191 / 7739
12
 (HPO:0002017) Nausea and vomiting Frequent [Orphanet] 134 / 7739
13
 (HPO:0002621) Atherosclerosis Frequent [Orphanet] 33 / 7739
14
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
15
 (HPO:0002040) Esophageal varix Occasional [Orphanet] 23 / 7739
16
 (HPO:0001395) Hepatic fibrosis 67 / 7739
17
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
18
 (HPO:0001508) Failure to thrive 454 / 7739
19
 (HPO:0001538) Protuberant abdomen 36 / 7739
20
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
21
 (HPO:0002014) Diarrhea 225 / 7739
22
 (HPO:0002092) Pulmonary hypertension 109 / 7739
23
 (HPO:0003124) Hypercholesterolemia 53 / 7739
24
 (HPO:0004333) Bone-marrow foam cells 11 / 7739
25
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
26
 (OMIM) Diffuse punctate adrenal calcification 3 / 7739
27
 (OMIM) Acid cholesteryl ester hydrolase deficiency 3 / 7739
28
 (OMIM) Disseminated organ foam cell infiltration 3 / 7739
29
 (OMIM) Normal or moderately elevated plasma lipids 3 / 7739
30
 (OMIM) Xanthomatous changes in liver, adrenal, spleen, lymph nodes, bone marrow, small intestine, lungs and thymus, and slight changes in skin, retina, and central nervous system 3 / 7739