|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
9
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
10
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
11
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001491)
|
Congenital fibrosis of extraocular muscles |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0002307)
|
Drooling |
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0006927)
|
Unilateral polymicrogyria |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0006930)
|
Frontoparietal cortical dysplasia |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0007941)
|
Limited extraocular movements |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Contralateral hemianopsia (1 family) |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Oromotor dyspraxia |
|
|
|
|
2 / 7739
|
|
19
|
(OMIM)
|
Malformations of cortical development, variable |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Polymicrogyria, asymmetric or symmetric |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Irregular folding of the cortex |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Frontotemporoparietal cortical dysplasia |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Contralateral hemiparesis, congenital |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Brainstem abnormalities |
|
|
|
|
3 / 7739
|
|
25
|
(OMIM)
|
Neuronal migration defect |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|