|
1
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
2
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
9
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
10
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
14
|
(HPO:0006821)
|
Polymicrogyria, anterior to posterior gradient |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0007095)
|
Frontoparietal polymicrogyria |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
|
17
|
(HPO:0011448)
|
Ankle clonus |
|
|
|
|
31 / 7739
|
|
18
|
(OMIM)
|
Dysconjugate gaze |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
20
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
21
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
23
|
(OMIM)
|
Finger dysmetria |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Polymicrogyria, most severe in the frontoparietal regions |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|