|
1
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
4
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
5
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
7
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
12
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
13
|
(HPO:0007260)
|
Type II lissencephaly |
|
|
|
|
13 / 7739
|
|
14
|
(OMIM)
|
Subcortical band heterotopia |
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
17
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0002281)
|
Gray matter heterotopias |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|