|
1
|
(HPO:0000253)
|
Progressive microcephaly |
common [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
5
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
9
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
10
|
(OMIM)
|
No visual attention |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Seizures, tonic, intractable |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Mental retardation, severe to profound |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
14
|
(OMIM)
|
Lack of visual attention |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Lack of independent ambulation |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
17
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
18
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
19
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
20
|
(OMIM)
|
Diffuse hypomyelination |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Widespread brain atrophy |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Brainstem atrophy |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
25
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
26
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
27
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
28
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|