|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000391)
|
Thickened helices |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
3/5 [HPO:probinson]
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001631)
|
Atria septal defect |
2/5 [HPO:probinson]
|
|
|
|
274 / 7739
|
|
9
|
(HPO:0001642)
|
Pulmonic stenosis |
2/5 [HPO:probinson]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
12
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|