|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
5
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0000022)
|
Abnormality of male internal genitalia |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0002023)
|
Anal atresia |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
10
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
11
|
(HPO:0000068)
|
Urethral atresia |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0000795)
|
Abnormality of the urethra |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
13
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
16
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
17
|
(HPO:0000042)
|
Absent external genitalia |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0000151)
|
Aplasia of the uterus |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
20
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
21
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
22
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
23
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
24
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
|
25
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
|
26
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
27
|
(HPO:0002946)
|
Supernumerary vertebrae |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0003250)
|
Aplasia of the vagina |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
31
|
(HPO:0003305)
|
Block vertebrae |
|
|
|
|
7 / 7739
|
|
32
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
33
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
34
|
(OMIM)
|
Short, thin ribs |
|
|
|
|
4 / 7739
|
|
35
|
(OMIM)
|
Intraabdominal testes |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Vertebral agenesis |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
38
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
39
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
40
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|