|
1
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
|
4
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0007308)
|
Extrapyramidal dyskinesia |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
8
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
11
|
(HPO:0002119)
|
Ventriculomegaly |
rare [HPO:skoehler]
|
|
|
|
253 / 7739
|
|
12
|
(HPO:0002169)
|
Clonus |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0002509)
|
Limb hypertonia |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
16
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
17
|
(HPO:0009879)
|
Cortical gyral simplification |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
18
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|