|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
variable [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
rare [HPO:skoehler]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(OMIM)
|
Microcephaly, profound (at least 10 SD below mean) |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
12
|
(OMIM)
|
Small shrunken brain |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
14
|
(OMIM)
|
Thin cerebral cortex |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Abnormal cortical layering |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Reduced numbers of neurons |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Small cerebellum |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
20
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|