|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [IBIS]
|
|
24608809; 23219996; 11050632
|
IBIS
|
266 / 7739
|
|
2
|
(HPO:0010442)
|
Polydactyly |
Frequent [IBIS]
|
|
24608809; 23219996
|
IBIS
|
69 / 7739
|
|
3
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
24608809; 23219996; 8588586
|
IBIS
|
172 / 7739
|
|
4
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
24608809
|
IBIS
|
230 / 7739
|
|
5
|
(HPO:0100259)
|
Postaxial polydactyly |
Frequent [IBIS]
|
|
8588586; 11050632
|
IBIS
|
85 / 7739
|
|
6
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
24608809
|
IBIS
|
25 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
24608809
|
IBIS
|
322 / 7739
|
|
8
|
(HPO:0000505)
|
Visual impairment |
|
|
22410627
|
IBIS
|
297 / 7739
|
|
9
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
23219996
|
IBIS
|
119 / 7739
|
|
10
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
23219996
|
IBIS
|
37 / 7739
|
|
11
|
(HPO:0000662)
|
Nyctalopia |
|
|
11050632
|
IBIS
|
92 / 7739
|
|
12
|
(HPO:0001141)
|
Severe visual impairment |
|
|
11050632
|
IBIS
|
11 / 7739
|
|
13
|
(HPO:0005562)
|
Multiple renal cysts |
|
|
11050632
|
IBIS
|
16 / 7739
|
|
14
|
(HPO:0002893)
|
Pituitary adenoma |
|
|
11050632
|
IBIS
|
16 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
11050632
|
IBIS
|
1245 / 7739
|
|
16
|
(HPO:0000175)
|
Cleft palate |
|
|
11050632
|
IBIS
|
349 / 7739
|
|
17
|
(HPO:0100631)
|
Neoplasm of the adrenal gland |
|
|
11050632
|
IBIS
|
5 / 7739
|