|
1
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
4
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
5
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
12
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
14
|
(HPO:0002133)
|
Status epilepticus |
|
|
|
|
59 / 7739
|
|
15
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
16
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
|
|
|
|
8 / 7739
|
|
17
|
(HPO:0009879)
|
Cortical gyral simplification |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|