1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
3
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
4
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
5
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
variable [HPO:skoehler]
|
|
|
|
1245 / 7739
|
9
|
(HPO:0001269)
|
Hemiparesis |
|
|
|
|
51 / 7739
|
10
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
11
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
12
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
13
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
14
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
15
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
16
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
17
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
18
|
(HPO:0010636)
|
Schizencephaly |
|
|
|
|
5 / 7739
|
19
|
(HPO:0100710)
|
Impulsivity |
|
|
|
|
16 / 7739
|
20
|
(OMIM)
|
Low forehead |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Poor motor development |
|
|
|
|
3 / 7739
|
22
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
23
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
24
|
(OMIM)
|
Small brain |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Abnormal gyral pattern |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
27
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
|
|
20 / 7739
|
28
|
(HPO:0002269)
|
Abnormality of neuronal migration |
|
|
|
|
10 / 7739
|
29
|
(OMIM)
|
Relative preservation of the cerebellum |
|
|
|
|
1 / 7739
|
30
|
(HPO:0012168)
|
Head-banging |
|
|
|
|
2 / 7739
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
32
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
33
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|