|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
6
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
7
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
12
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
15
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
16
|
(OMIM)
|
Mental retardation, severe to profound |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
20
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
21
|
(HPO:0007227)
|
Macrogyria |
|
|
|
|
9 / 7739
|
|
22
|
(OMIM)
|
Subcortical laminar heterotopia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hooked aspect of the frontal horn of the lateral ventricles due to abnormally shaped basal ganglia |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Abnormal hippocampus |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Absence or hypoplasia of the anterior limb of the internal capsule |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|