|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
6
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
9
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
14
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
15
|
(OMIM)
|
No language development |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0002360)
|
Sleep disturbance |
|
|
|
|
113 / 7739
|
|
17
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
18
|
(OMIM)
|
Subcortical band heterotopia |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
|
20
|
(OMIM)
|
Prominent perivascular spaces |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
22
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
23
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|