|
1
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
2
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0002121)
|
Absence seizures |
|
|
|
|
62 / 7739
|
|
7
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0007359)
|
Focal seizures |
|
|
|
|
27 / 7739
|
|
9
|
(OMIM)
|
Laterally placed eyebrows |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Intractable seizures |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0002197)
|
Generalized seizures |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
15
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
16
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
17
|
(OMIM)
|
Abnormal spike waves |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Slowed background activity |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
MRI shows short, thick corpus callosum |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Persistent cavus septum pellucidum |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0007074)
|
Thick corpus callosum |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0200134)
|
Epileptic encephalopathy |
|
|
|
|
42 / 7739
|