|
1
|
(HPO:0000505)
|
Visual impairment |
|
|
20690115
|
IBIS
|
297 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
2/4 [HPO:probinson]
|
|
16909394
|
IBIS
|
1245 / 7739
|
|
3
|
(HPO:0004409)
|
Hyposmia |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
20690115
|
IBIS
|
65 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
|
|
20690115; 16909394
|
IBIS
|
555 / 7739
|
|
6
|
(HPO:0000618)
|
Blindness |
|
|
20690115; 16909394
|
IBIS
|
124 / 7739
|
|
7
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
20690115
|
IBIS
|
47 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
20690115
|
IBIS
|
1089 / 7739
|
|
9
|
(HPO:0000717)
|
Autism |
|
|
20690115
|
IBIS
|
108 / 7739
|
|
10
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
20690115
|
IBIS
|
51 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
20690115
|
IBIS
|
413 / 7739
|
|
12
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
20690115
|
IBIS
|
61 / 7739
|
|
13
|
(HPO:0004408)
|
Abnormality of the sense of smell |
|
|
20690115
|
IBIS
|
28 / 7739
|
|
14
|
(HPO:0007758)
|
Congenital visual impairment |
|
|
16909394
|
IBIS
|
2 / 7739
|
|
15
|
(HPO:0000490)
|
Deeply set eye |
|
|
16909394
|
IBIS
|
131 / 7739
|
|
16
|
(HPO:0000568)
|
Microphthalmia |
|
|
16909394
|
IBIS
|
183 / 7739
|
|
17
|
(HPO:0000540)
|
Hypermetropia |
|
|
16909394
|
IBIS
|
99 / 7739
|
|
18
|
(HPO:0000563)
|
Keratoconus |
|
|
16909394
|
IBIS
|
25 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
|
|
16909394
|
IBIS
|
454 / 7739
|
|
20
|
(HPO:0001083)
|
Ectopia lentis |
|
|
16909394
|
IBIS
|
45 / 7739
|
|
21
|
(HPO:0001146)
|
Pigmentary retinal degeneration |
|
|
16909394
|
IBIS
|
15 / 7739
|
|
22
|
(HPO:0030505)
|
Nummular pigmentation of the retina |
|
|
16909394
|
IBIS
|
1 / 7739
|
|
23
|
(HPO:0007994)
|
Peripheral visual field loss |
|
|
16909394
|
IBIS
|
13 / 7739
|
|
24
|
(HPO:0000483)
|
Astigmatism |
|
|
16909394
|
IBIS
|
67 / 7739
|