|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
3
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
6
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
9
|
(HPO:0010497)
|
Sirenomelia |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
10
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
11
|
(HPO:0002250)
|
Abnormality of the large intestine |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
13
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0005107)
|
Abnormality of the sacrum |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0000148)
|
Vaginal atresia |
|
|
|
|
16 / 7739
|
|
18
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
19
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
20
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
21
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
22
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(OMIM)
|
Mullerian defects |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Fallopian tube aplasia |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Seminal vesicle cyst |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000021)
|
Megacystis |
|
|
|
|
7 / 7739
|
|
27
|
(HPO:0000068)
|
Urethral atresia |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0000795)
|
Abnormality of the urethra |
|
|
|
|
38 / 7739
|
|
29
|
(HPO:0008661)
|
Urethral stenosis |
|
|
|
|
9 / 7739
|
|
30
|
(HPO:0010481)
|
Urethral valve |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0010956)
|
Fetal megacystis |
|
|
|
|
5 / 7739
|
|
32
|
(HPO:0010957)
|
Congenital posterior urethral valve |
|
|
|
|
9 / 7739
|
|
33
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
34
|
(OMIM)
|
Deformity of feet and hands |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Large, low-set ears deficient in cartilage |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000204)
|
Cleft upper lip |
Occasional [Orphanet]
|
|
|
|
193 / 7739
|
|
37
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
38
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
39
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
40
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
41
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
42
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
46
|
(HPO:0002009)
|
Potter facies |
|
|
|
|
8 / 7739
|
|
47
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|