|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
3
|
(HPO:0100720)
|
Hypoplasia of the ear cartilage |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0001407)
|
Hepatic cysts |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0006706)
|
Cystic liver disease |
Frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0005248)
|
Intrahepatic biliary atresia |
Frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
13
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0001405)
|
Periportal fibrosis |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0001409)
|
Portal hypertension |
|
|
|
|
39 / 7739
|
|
16
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0001737)
|
Pancreatic cysts |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
19
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
20
|
(HPO:0002009)
|
Potter facies |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0002040)
|
Esophageal varix |
|
|
|
|
23 / 7739
|
|
22
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
23
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
24
|
(HPO:0005564)
|
Absence of renal corticomedullary differentiation |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
|
26
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
27
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
28
|
(OMIM)
|
Bile duct dilation and proliferation |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Increased echogenicity of entire parenchyma |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
31
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
33
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
34
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003811)
|
Neonatal death |
Rare [HPO:probinson]
|
|
|
|
44 / 7739
|