|
1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
3
|
(HPO:0000790)
|
Hematuria |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
4
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
6
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0000787)
|
Nephrolithiasis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
9
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
11
|
(HPO:0000547)
|
Tapetoretinal degeneration |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0001116)
|
Macular coloboma |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0005567)
|
Renal magnesium wasting |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0012608)
|
Hypermagnesiuria |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0012637)
|
Renal calcium wasting |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
21
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|