1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0100779)
|
Urogenital sinus anomaly |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
3
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
4
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
7
|
(HPO:0005199)
|
Aplasia of the abdominal wall musculature |
|
|
|
|
5 / 7739
|
8
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
12
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
13
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
15
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
16
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
17
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
18
|
(HPO:0000076)
|
Vesicoureteral reflux |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
20
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
21
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
22
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
23
|
(HPO:0000795)
|
Abnormality of the urethra |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
24
|
(HPO:0010957)
|
Congenital posterior urethral valve |
|
|
|
|
9 / 7739
|
25
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
26
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
27
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
28
|
(HPO:0000217)
|
Xerostomia |
|
|
|
|
35 / 7739
|
29
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
30
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
31
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
32
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
33
|
(HPO:0002580)
|
Volvulus |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
34
|
(HPO:0003422)
|
Vertebral segmentation defect |
Occasional [Orphanet]
|
|
|
|
95 / 7739
|
35
|
(HPO:0004392)
|
Prune belly |
|
|
|
|
4 / 7739
|
36
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
37
|
(OMIM)
|
Impaired pupillary constriction to light |
|
|
|
|
1 / 7739
|
38
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
39
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
40
|
(OMIM)
|
Visible intestinal pattern (so-called 'prune belly') |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Thin, lax, protruding abdominal wall |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Distended bladder |
|
|
|
|
2 / 7739
|
43
|
(OMIM)
|
Fetal urinary tract obstruction |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Wrinkled abdominal skin |
|
|
|
|
1 / 7739
|
45
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
46
|
(HPO:0002242)
|
Abnormality of the intestine |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
47
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
48
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
49
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
50
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
51
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|