|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0100720)
|
Hypoplasia of the ear cartilage |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0002101)
|
Abnormal lung lobation |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
6
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0002566)
|
Intestinal malrotation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
10
|
(HPO:0000828)
|
Abnormality of the parathyroid gland |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
16
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
18
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
19
|
(HPO:0008631)
|
Ureteral dysgenesis |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0010515)
|
Aplasia/Hypoplasia of the thymus |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0012300)
|
Ureteral agenesis |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Ureteral agenesis/dysgenesis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Cystic renal mass |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Low amniotic fluid disaccharidases |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Unilobed or absent thymus |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Unilobed lung |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
28
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
29
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
30
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
31
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
32
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|