|
1
|
(HPO:0000123)
|
Nephritis |
|
|
15265795
|
IBIS
|
18 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
15265795
|
IBIS
|
524 / 7739
|
|
3
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
15265795
|
IBIS
|
78 / 7739
|
|
4
|
(HPO:0007678)
|
Lacrimal duct stenosis |
|
|
15265795
|
IBIS
|
8 / 7739
|
|
5
|
(HPO:0008404)
|
Nail dystrophy |
|
|
15265795
|
IBIS
|
89 / 7739
|
|
6
|
(HPO:0011906)
|
Reduced beta/alpha synthesis ratio |
|
|
15265795
|
IBIS
|
3 / 7739
|
|
7
|
(HPO:0012221)
|
Pretibial blistering |
|
|
15265795
|
IBIS
|
2 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|