|
1
|
(HPO:0000465)
|
Webbed neck |
7/9 [HPO:probinson]
|
|
17603482
|
IBIS
|
81 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
17603482
|
IBIS
|
345 / 7739
|
|
3
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
17603482
|
IBIS
|
31 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
17603482
|
IBIS
|
853 / 7739
|
|
5
|
(HPO:0001631)
|
Atria septal defect |
6/11 [HPO:probinson]
|
|
17603482
|
IBIS
|
274 / 7739
|
|
6
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
8/11 [HPO:probinson]
|
|
17603482
|
IBIS
|
137 / 7739
|
|
7
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
17603482
|
IBIS
|
169 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
10/11 [HPO:probinson]
|
|
17603482
|
IBIS
|
1232 / 7739
|
|
9
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|