|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
6
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
rare [HPO:skoehler]
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
9
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
10
|
(OMIM)
|
Malformations of cortical development |
|
|
|
|
3 / 7739
|
|
11
|
(OMIM)
|
Thick cortex |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Subcortical band heterotopia |
|
|
|
|
6 / 7739
|
|
13
|
(OMIM)
|
Dysmorphic basal ganglia |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|