|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0000142)
|
Abnormality of the vagina |
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
8
|
(HPO:0000475)
|
Broad neck |
|
|
|
|
12 / 7739
|
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
10
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
11
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
12
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
17
|
(HPO:0001674)
|
Complete atrioventricular canal defect |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0001747)
|
Accessory spleen |
|
|
|
|
8 / 7739
|
|
19
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
20
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
21
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0002536)
|
Abnormal cortical gyration |
|
|
|
|
72 / 7739
|
|
23
|
(HPO:0002777)
|
Tracheal stenosis |
|
|
|
|
35 / 7739
|
|
24
|
(HPO:0006379)
|
Proximal tibial hypoplasia |
|
|
|
|
2 / 7739
|
|
25
|
(HPO:0008216)
|
Adrenal gland dysgenesis |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0008749)
|
Laryngeal hypoplasia |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0008986)
|
Agenesis of the diaphragm |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0009752)
|
Cleft in skull base |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0009824)
|
Upper limb undergrowth |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0011803)
|
Bifid nose |
|
|
|
|
12 / 7739
|
|
31
|
(OMIM)
|
Lateral or midline cleft lip |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0010281)
|
Cleft lower lip |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Bronchial stenosis |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Defective lobation |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0005944)
|
Bilateral lung agenesis |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Incomplete bowel rotation |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Duplicated uterus |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
'Key hole-shaped' deformity of base of skull (occipitoschisis) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
40
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
41
|
(OMIM)
|
Hallux duplication |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Severe prenatal onset hydrocephalus |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Absent pituitary |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0002323)
|
Anencephaly |
|
|
|
|
28 / 7739
|
|
45
|
(OMIM)
|
Cerebellar heterotopias |
|
|
|
|
1 / 7739
|