|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
rare [HPO:skoehler]
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
7
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
8
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
9
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0003502)
|
Mild short stature |
|
|
|
|
19 / 7739
|
|
11
|
(OMIM)
|
Microcephaly, mild |
|
|
|
|
4 / 7739
|
|
12
|
(OMIM)
|
Situs solitus |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased kidney volume (1 patient) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
15
|
(OMIM)
|
Lack of speech or poor speech |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0007256)
|
Abnormal pyramidal signs |
rare [HPO:skoehler]
|
|
|
|
116 / 7739
|
|
17
|
(OMIM)
|
Polymicrogyria, diffuse, asymmetric |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cerebellar atrophy, mild |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|