|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
7
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
8
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
9
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
10
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
13
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
14
|
(HPO:0005156)
|
Hypoplastic left atrium |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Enlarged pulmonary trunk (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Small spleen |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Malrotation of bowel |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|