|
1
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000989)
|
Pruritus |
Very frequent [Orphanet]
|
|
|
|
111 / 7739
|
|
3
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0001733)
|
Pancreatitis |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
5
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
6
|
(HPO:0002024)
|
Malabsorption |
Occasional [Orphanet]
|
|
|
|
142 / 7739
|
|
7
|
(HPO:0002027)
|
Abdominal pain |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
8
|
(HPO:0002039)
|
Anorexia |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002896)
|
Neoplasm of the liver |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
11
|
(HPO:0012086)
|
Abnormal urinary color |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0011985)
|
Acholic stools |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
14
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
15
|
(HPO:0012437)
|
Abnormal gallbladder morphology |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001046)
|
Intermittent jaundice |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0001406)
|
Intrahepatic cholestasis |
|
|
|
|
16 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0002613)
|
Biliary cirrhosis |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|