|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
40 % [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0002312)
|
Clumsiness |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0007341)
|
Diffuse swelling of cerebral white matter |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
10
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
11
|
(OMIM)
|
Diffuse white matter abnormalities seen on brain MRI |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Cavum septi pellucidi |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Cavum Vergae |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Subcortical cysts temporal lobe |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|