|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
occasional [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
9
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
10
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
13
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
15
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
16
|
(OMIM)
|
Neuronal migration defect |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Defect in axonal guidance |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cortical dysgenesis, complex |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0007095)
|
Frontoparietal polymicrogyria |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0012650)
|
Perisylvian polymicrogyria |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Gyral disorganization |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Gyral simplification |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Dysplastic cerebellar vermis |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Dysmorphic basal ganglia |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Fusion of the basal ganglia |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Misorientation of pyramidal fibers |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|