|
1
|
(HPO:0002024)
|
Malabsorption |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
2
|
(HPO:0001004)
|
Lymphedema |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
3
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
5
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000825)
|
Hyperinsulinemic hypoglycemia |
|
|
|
|
18 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0001892)
|
Abnormal bleeding |
|
|
|
|
85 / 7739
|
|
13
|
(HPO:0001929)
|
Reduced factor XI activity |
|
|
|
|
7 / 7739
|
|
14
|
(HPO:0001976)
|
Reduced antithrombin III activity |
|
|
|
|
10 / 7739
|
|
15
|
(HPO:0001977)
|
Abnormal thrombosis |
|
|
|
|
11 / 7739
|
|
16
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
17
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002243)
|
Protein-losing enteropathy |
|
|
|
|
8 / 7739
|
|
20
|
(HPO:0003073)
|
Hypoalbuminemia |
|
|
|
|
40 / 7739
|
|
21
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
23
|
(MedDRA:10025210)
|
Lymphangiectasia |
|
|
|
|
2 / 7739
|
|
24
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
25
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
26
|
(OMIM)
|
Bleeding episodes |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Phosphomannose isomerase deficiency in leukocytes, fibroblasts, or liver |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|