|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
5
|
(HPO:0001989)
|
Fetal akinesia sequence |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
8
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
9
|
(OMIM)
|
Malformations of cortical development |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
|
11
|
(OMIM)
|
Thin corpus callosum Gyral simplification |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Delayed cerebellar development (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Delayed brainstem development (in some patients) |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
15
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
17
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|