|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
6
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0007069)
|
Profound static encephalopathy |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0007270)
|
Atypical absence seizures |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0100702)
|
Arachnoid cyst |
|
|
|
|
15 / 7739
|
|
11
|
(OMIM)
|
Cortical simplification |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Subcortical nodular lesions in perivascular white matter |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|