|
1
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
14
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
15
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
16
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
rare [HPO:skoehler]
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
18
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
21
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
22
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
23
|
(HPO:0007260)
|
Type II lissencephaly |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
24
|
(HPO:0007663)
|
Reduced visual acuity |
|
|
|
|
100 / 7739
|
|
25
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|