|
1
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0001539)
|
Omphalocele |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
8
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
|
9
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
10
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
11
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
12
|
(HPO:0002992)
|
Abnormality of the tibia |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0001697)
|
Abnormality of the pericardium |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
19
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0002323)
|
Anencephaly |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
22
|
(HPO:0000766)
|
Abnormality of the sternum |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
24
|
(HPO:0000476)
|
Cystic hygroma |
|
|
|
|
22 / 7739
|
|
25
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
26
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0001683)
|
Ectopia cordis |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
29
|
(HPO:0002933)
|
Ventral hernia |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
31
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
32
|
(OMIM)
|
Sternal fusion defects |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
34
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
35
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
36
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
37
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|