|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000322)
|
Short philtrum |
4/4 [HPO:probinson]
|
|
|
|
130 / 7739
|
|
3
|
(HPO:0000455)
|
Broad nasal tip |
4/4 [HPO:probinson]
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
4/4 [HPO:probinson]
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0000748)
|
Inappropriate laughter |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
4/4 [HPO:probinson]
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
8
|
(HPO:0002463)
|
Language impairment |
4/4 [HPO:probinson]
|
|
|
|
15 / 7739
|
|
9
|
(HPO:0008070)
|
Sparse hair |
4/4 [HPO:probinson]
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0010864)
|
Intellectual disability, severe |
4/4 [HPO:probinson]
|
|
|
|
120 / 7739
|