|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Rare [HPO:probinson]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
9
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
10
|
(HPO:0002472)
|
Small cerebral cortex |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0002539)
|
Cortical dysplasia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
14
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|
|
15
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
16
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
17
|
(OMIM)
|
Simplified cortical gyration pattern |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|