|
1
|
(HPO:0000090)
|
Nephronophthisis |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000556)
|
Retinal dystrophy |
variable [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
3
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
7
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0001305)
|
Dandy-Walker malformation |
rare [HPO:skoehler]
|
|
|
|
79 / 7739
|
|
9
|
(HPO:0002084)
|
Encephalocele |
rare [HPO:skoehler]
|
|
|
|
70 / 7739
|
|
10
|
(HPO:0011815)
|
Cephalocele |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
12
|
(HPO:0010442)
|
Polydactyly |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
13
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0001161)
|
Hand polydactyly |
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0001829)
|
Foot polydactyly |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000107)
|
Renal cyst |
rare [HPO:skoehler]
|
|
|
|
126 / 7739
|