|
1
|
(HPO:0000037)
|
Male pseudohermaphroditism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0100026)
|
Arteriovenous malformation |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
4
|
(HPO:0010305)
|
Absence of the sacrum |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0000048)
|
Bifid scrotum |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
|
6
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
7
|
(HPO:0002250)
|
Abnormality of the large intestine |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
8
|
(HPO:0100559)
|
Lower limb asymmetry |
Occasional [Orphanet]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
10
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0000011)
|
Neurogenic bladder |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
14
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
15
|
(HPO:0000143)
|
Rectovaginal fistula |
|
|
|
|
18 / 7739
|
|
16
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
17
|
(HPO:0001153)
|
Septate vagina |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
20
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
21
|
(HPO:0002144)
|
Tethered cord |
|
|
|
|
8 / 7739
|
|
22
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0004796)
|
Gastrointestinal obstruction |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0007293)
|
Anterior sacral meningocele |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0009789)
|
Perianal abscess |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0009790)
|
Hemisacrum |
75% [HPO:probinson]
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0009791)
|
Bifid sacrum |
22% [HPO:probinson]
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0009793)
|
Presacral teratoma |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0010447)
|
Anal fistula |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0012450)
|
Chronic constipation |
|
|
|
|
10 / 7739
|
|
31
|
(OMIM)
|
Enteric cyst |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Anorectal sinus |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Perianal sepsis/abscess |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Rectal dilatation |
|
|
|
|
1 / 7739
|
|
35
|
(MedDRA:10002581)
|
Anorectal stenosis |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Preserved S1 vertebrae |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
38
|
(HPO:0009792)
|
Teratoma |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
39
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
40
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|