|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
4
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
5
|
(HPO:0004333)
|
Bone-marrow foam cells |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
7
|
(OMIM)
|
Childhood glomerular nephropathy |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Leukocyte alpha-(2-6) neuraminidase defect |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Renal epithelial cell damage worst in glomeruli and proximal tubules, with high molecular weight sialyloligosaccharide storage |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Early-onset pericardial effusion |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Fundus cherry red spot |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
13
|
(OMIM)
|
Visceral storage disease |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Congenital ascites |
|
|
|
|
1 / 7739
|