|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
8
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
9
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
10
|
(OMIM)
|
Seizures, refractory, infantile-onset |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Lack of speech or only a few works |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
13
|
(OMIM)
|
Patient cells show defective DNA repair in response to irradiation and free radical damage |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0001251)
|
Ataxia |
rare [HPO:skoehler]
|
|
|
|
413 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001265)
|
Hyporeflexia |
rare [HPO:skoehler]
|
|
|
|
208 / 7739
|
|
19
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
20
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|