|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001399)
|
Hepatic failure |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0001929)
|
Reduced factor XI activity |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0001976)
|
Reduced antithrombin III activity |
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0008150)
|
Elevated serum transaminases during infections |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
13
|
(OMIM)
|
Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase deficiency |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Decreased serum cholesterol |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Decreased factor XI |
|
|
|
|
1 / 7739
|
|
16
|
(MedDRA:10037005)
|
Protein C decreased |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|