|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0002607)
|
Bowel incontinence |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0010305)
|
Absence of the sacrum |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0009800)
|
Maternal diabetes |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
7
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0000202)
|
Oral cleft |
Occasional [Orphanet]
|
|
|
|
120 / 7739
|
|
10
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0000072)
|
Hydroureter |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
15
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
|
|
|
|
94 / 7739
|
|
16
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
17
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
18
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
19
|
(HPO:0000011)
|
Neurogenic bladder |
|
|
|
|
11 / 7739
|
|
20
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
21
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
22
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
23
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
24
|
(HPO:0007293)
|
Anterior sacral meningocele |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0100542)
|
Abnormal localization of kidney |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
26
|
(OMIM)
|
Constipation due to mass effect of meningocele |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Urinary retention due to mass effect of meningocele |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0100515)
|
Pollakisuria |
|
|
|
|
12 / 7739
|
|
29
|
(OMIM)
|
Anterior sacral hemidefect |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
'Scimitar' sign on X-ray |
|
|
|
|
3 / 7739
|
|
31
|
(HPO:0009790)
|
Hemisacrum |
|
|
|
|
4 / 7739
|
|
32
|
(OMIM)
|
Sacral agenesis |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Coccyx defects |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Cysts tend to enlarge with age |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Lipoma, anterior sacral |
|
|
|
|
3 / 7739
|
|
36
|
(HPO:0001140)
|
Epibulbar dermoid |
|
|
|
|
11 / 7739
|
|
37
|
(OMIM)
|
Neural tube defects may occur |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0006946)
|
Recurrent meningitis |
|
|
|
|
6 / 7739
|
|
39
|
(OMIM)
|
Tethered spinal cord |
|
|
|
|
5 / 7739
|
|
40
|
(OMIM)
|
Prolonged labor |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Obstructed labor |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
43
|
(HPO:0002839)
|
Urinary bladder sphincter dysfunction |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
44
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
45
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
46
|
(HPO:0012443)
|
Abnormality of brain morphology |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
47
|
(HPO:0011442)
|
Abnormality of central motor function |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
48
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|