|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
7
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
10
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
15
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
16
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
17
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
18
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
21
|
(OMIM)
|
Valvular insufficiency |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Fetal pleural effusion |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|