|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000092)
|
Tubular atrophy |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
6
|
(HPO:0000546)
|
Retinal degeneration |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
13
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0001959)
|
Polydipsia |
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
27625867
|
IBIS
|
78 / 7739
|
|
16
|
(HPO:0005583)
|
Tubular basement membrane disintegration |
|
|
|
|
18 / 7739
|
|
17
|
(HPO:0009916)
|
Anisocoria |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
18
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
19
|
(OMIM)
|
Mild cortical atrophy (in 1 patient) |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|