|
1
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
8
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
9
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
|
12
|
(HPO:0011995)
|
Atrial septal aneurysm |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0012209)
|
Juvenile myelomonocytic leukemia |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|