|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
6
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
8
|
(HPO:0002373)
|
Febrile seizures |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|