|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000448)
|
Prominent nose |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0000488)
|
Retinopathy |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0000520)
|
Proptosis |
rare [HPO:skoehler]
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0000543)
|
Optic disc pallor |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
11
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
12
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
18
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0007401)
|
Macular atrophy |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
21
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|