|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
5
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
6
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
7
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
9
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
11
|
(HPO:0007001)
|
Loss of Purkinje cells in the cerebellar vermis |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0007105)
|
Infantile encephalopathy |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
14
|
(OMIM)
|
Little spontaneous breath |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Central respiratory failure |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Swallowing disturbances |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hypertonia at birth |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Delayed psychomotor development, profound |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Decreased cerebellar folia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Cerebellar cortex shows normal layers |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Loss of Purkinje cells |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Pontine hypoplasia |
|
|
|
|
8 / 7739
|
|
23
|
(OMIM)
|
Shrunken inferior olivary nuclei |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Inferior olivary nuclei show fetal pattern |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Neocortical atrophy |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|
|
27
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|