|
1
|
(HPO:0001744)
|
Splenomegaly |
Very frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
2
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0001928)
|
Abnormality of coagulation |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
4
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
5
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
6
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
|
7
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
8
|
(HPO:0002901)
|
Hypocalcemia |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
12
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
16
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
17
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
20
|
(HPO:0002630)
|
Fat malabsorption |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
22
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
24
|
(HPO:0006575)
|
Intrahepatic cholestasis with episodic jaundice |
|
|
|
|
1 / 7739
|