|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000125)
|
Pelvic kidney |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
16
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
17
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
18
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
19
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
20
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
22
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
|
23
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
24
|
(HPO:0005113)
|
Dilatation of the aortic arch |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0001750)
|
Single ventricle |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
27
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0004935)
|
Pulmonary artery atresia |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0004960)
|
Absent pulmonary artery |
|
|
|
|
5 / 7739
|
|
31
|
(HPO:0005156)
|
Hypoplastic left atrium |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0005311)
|
Agenesis of pulmonary vessels |
|
|
|
|
2 / 7739
|
|
33
|
(HPO:0006270)
|
Hypoplastic spleen |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
|
35
|
(HPO:0009110)
|
Diaphragmatic eventration |
|
|
|
|
8 / 7739
|
|
36
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
37
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
38
|
(OMIM)
|
Large, low-set ears (uncommon) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Broad, flared eyebrows |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Only upward-growing eyebrows (uncommon) |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hypoplasia or absence of optic nerve |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Coloboma, isolated (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Dilation of atrium |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Dilation of ventricle |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Small ventricle |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Alveolar capillary dysplasia |
|
|
|
|
2 / 7739
|
|
47
|
(HPO:0012020)
|
Right aortic arch |
|
|
|
|
9 / 7739
|
|
48
|
(OMIM)
|
Pulmonary hypoplasia, usually bilateral |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Pulmonary agenesis, usually bilateral |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Unilobular lung |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Hypoplastic, bicornuate uterus |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Malrotation of kidney |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Hypoplastic renal arteries (rare) |
|
|
|
|
1 / 7739
|
|
54
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
55
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|