|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
3
|
(HPO:0000790)
|
Hematuria |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
4
|
(HPO:0000093)
|
Proteinuria |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
5
|
(HPO:0000822)
|
Hypertension |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0100820)
|
Glomerulopathy |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
9
|
(OMIM)
|
No bone disorder |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Glomerulodysplasia |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal nails |
|
|
|
|
15 / 7739
|
|
12
|
(OMIM)
|
Renal biopsy EM shows glomerular basement membrane changes like nail-patella syndrome |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|