|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
3
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000130)
|
Abnormality of the uterus |
|
|
|
|
86 / 7739
|
|
5
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
7
|
(HPO:0000180)
|
Lobulated tongue |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
12
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
16
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
17
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
18
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
19
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
|
20
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
|
22
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
23
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
|
24
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
25
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
26
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0001341)
|
Olfactory lobe agenesis |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
|
29
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
30
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
31
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
32
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
33
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
34
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
35
|
(HPO:0001746)
|
Asplenia |
|
|
|
|
19 / 7739
|
|
36
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
|
37
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
38
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
39
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
|
40
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
41
|
(HPO:0002308)
|
Arnold-Chiari malformation |
|
|
|
|
42 / 7739
|
|
42
|
(HPO:0002323)
|
Anencephaly |
|
|
|
|
28 / 7739
|
|
43
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
44
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
45
|
(HPO:0005343)
|
Hypoplasia of the bladder |
|
|
|
|
4 / 7739
|
|
46
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
|
47
|
(HPO:0006872)
|
Cerebral hypoplasia |
|
|
|
|
7 / 7739
|
|
48
|
(OMIM)
|
Variable prenatal growth deficiency |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
'Potter-like' facies |
|
|
|
|
2 / 7739
|
|
50
|
(OMIM)
|
Cleft epiglottis |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Bile duct dilatation |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
|
53
|
(OMIM)
|
Separated vagina |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Duplicated ureter |
|
|
|
|
2 / 7739
|
|
55
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
56
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
57
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
|
58
|
(OMIM)
|
Optic tract agenesis |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Prenatal diagnosis by ultrasound |
|
|
|
|
5 / 7739
|