|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002510)
|
Spastic tetraplegia |
rare [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
7
|
(OMIM)
|
Malformations of cortical development |
|
|
|
|
3 / 7739
|
|
8
|
(OMIM)
|
Posterior agyria, |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Posterior pachygyria |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Thick cortex |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Dysmorphic corpus callosum |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Subcortical band heterotopia |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|