|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0001195)
|
Single umbilical artery |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
4
|
(HPO:0001669)
|
Transposition of the great arteries |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
5
|
(HPO:0010305)
|
Absence of the sacrum |
Frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0001545)
|
Anteriorly placed anus |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
8
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
9
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
10
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0000011)
|
Neurogenic bladder |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0001287)
|
Meningitis |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
14
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
15
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0005224)
|
Rectal abscess |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0007293)
|
Anterior sacral meningocele |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
|
|
|
|
127 / 7739
|
|
19
|
(HPO:0012033)
|
Sacral lipoma |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Constipation due to mass effect of meningocele |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Urinary retention due to mass effect of meningocele |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0100515)
|
Pollakisuria |
|
|
|
|
12 / 7739
|
|
23
|
(OMIM)
|
Anterior sacral hemidefect |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
'Scimitar' sign on X-ray |
|
|
|
|
3 / 7739
|
|
25
|
(HPO:0009790)
|
Hemisacrum |
|
|
|
|
4 / 7739
|
|
26
|
(OMIM)
|
Sacral agenesis |
|
|
|
|
4 / 7739
|
|
27
|
(OMIM)
|
Coccyx defects |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Cysts tend to enlarge with age |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Lipoma, anterior sacral |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0001140)
|
Epibulbar dermoid |
|
|
|
|
11 / 7739
|
|
31
|
(OMIM)
|
Neural tube defects may occur |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0006946)
|
Recurrent meningitis |
|
|
|
|
6 / 7739
|
|
33
|
(OMIM)
|
Tethered spinal cord |
|
|
|
|
5 / 7739
|
|
34
|
(OMIM)
|
Prolonged labor |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Obstructed labor |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
37
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
38
|
(HPO:0000069)
|
Abnormality of the ureter |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|