1
|
(HPO:0005944)
|
Bilateral lung agenesis |
|
|
|
|
4 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0010772)
|
Anomalous pulmonary venous return |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Occasional [Orphanet]
|
|
|
|
56 / 7739
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
6
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
7
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
8
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
9
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
10
|
(HPO:0002101)
|
Abnormal lung lobation |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
11
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
13
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
14
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
15
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
16
|
(HPO:0006695)
|
Atrioventricular canal defect |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
17
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
18
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
19
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
20
|
(HPO:0009623)
|
Proximal placement of thumb |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
21
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
22
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
23
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
24
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
25
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
26
|
(HPO:0011039)
|
Abnormality of the helix |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
27
|
(HPO:0100682)
|
Tracheal atresia |
|
|
|
|
1 / 7739
|
28
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
29
|
(OMIM)
|
Total anomalous pulmonary return |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Dysplastic heart valves |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Lung agenesis |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Duplication of the thumb |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Single phalanx of the thumb |
|
|
|
|
1 / 7739
|
34
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
|
57 / 7739
|
35
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
37
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
38
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|