|
1
|
(HPO:0002623)
|
Overriding aorta |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
|
2
|
(HPO:0009914)
|
Cyclopia |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
3
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0005264)
|
Abnormality of the gallbladder |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0000202)
|
Oral cleft |
Frequent [Orphanet]
|
|
|
|
120 / 7739
|
|
9
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
10
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
12
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
13
|
(HPO:0009829)
|
Phocomelia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
18
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
19
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
21
|
(HPO:0009927)
|
Aplasia of the nose |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0000161)
|
Median cleft lip |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0000601)
|
Hypotelorism |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
24
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
25
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
26
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
27
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
28
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
29
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
|
30
|
(HPO:0007744)
|
Iridoretinal coloboma |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0008501)
|
Median cleft lip and palate |
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
33
|
(HPO:0008718)
|
Unilateral renal dysplasia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
35
|
(HPO:0011467)
|
Absent gallbladder |
|
|
|
|
6 / 7739
|
|
36
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
|
37
|
(OMIM)
|
Bilateral hypoplasia of radius and ulna |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Absent philtrum |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Pentalogy of Fallot |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
41
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
42
|
(HPO:0000479)
|
Abnormality of the retina |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
43
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
44
|
(HPO:0012443)
|
Abnormality of brain morphology |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
46
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|