|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0001539)
|
Omphalocele |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
7
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
9
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
10
|
(HPO:0010458)
|
Female pseudohermaphroditism |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0000062)
|
Ambiguous genitalia |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
14
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0004383)
|
Hypoplastic left heart |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
16
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
18
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
19
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
20
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
21
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
22
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
24
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
25
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
26
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
27
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
28
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
29
|
(HPO:0000078)
|
Abnormality of the genital system |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
30
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
|
31
|
(HPO:0002817)
|
Abnormality of the upper limb |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|