|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
23683095
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000505)
|
Visual impairment |
|
|
23683095
|
IBIS
|
297 / 7739
|
|
3
|
(HPO:0001407)
|
Hepatic cysts |
|
|
23559409
|
IBIS
|
9 / 7739
|
|
4
|
(HPO:0001737)
|
Pancreatic cysts |
|
|
23559409
|
IBIS
|
15 / 7739
|
|
5
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
23683095
|
IBIS
|
266 / 7739
|
|
6
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
23683095
|
IBIS
|
16 / 7739
|
|
7
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23683095
|
IBIS
|
230 / 7739
|
|
8
|
(HPO:0030504)
|
Grouped congenital hypertrophy of retinal pigment epithelium |
|
|
23683095
|
IBIS
|
1 / 7739
|
|
9
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
23683095
|
IBIS
|
113 / 7739
|
|
10
|
(HPO:0001385)
|
Hip dysplasia |
|
|
23683095
|
IBIS
|
242 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
23683095
|
IBIS
|
316 / 7739
|
|
12
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
23683095; 23559409
|
IBIS
|
65 / 7739
|
|
13
|
(HPO:0000648)
|
Optic atrophy |
|
|
23683095
|
IBIS
|
238 / 7739
|
|
14
|
(HPO:0000639)
|
Nystagmus |
|
|
23683095
|
IBIS
|
555 / 7739
|
|
15
|
(HPO:0000662)
|
Nyctalopia |
|
|
23683095
|
IBIS
|
92 / 7739
|
|
16
|
(HPO:0001561)
|
Polyhydramnios |
|
|
23683095
|
IBIS
|
191 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
23683095
|
IBIS
|
1089 / 7739
|
|
18
|
(HPO:0009381)
|
Short finger |
|
|
23683095
|
IBIS
|
45 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
23683095
|
IBIS
|
705 / 7739
|
|
20
|
(HPO:0010442)
|
Polydactyly |
|
|
23559409
|
IBIS
|
69 / 7739
|
|
21
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
23559409
|
IBIS
|
28 / 7739
|