|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
4
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
5
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
10
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
11
|
(OMIM)
|
Duodenal web |
|
|
|
|
1 / 7739
|
|
12
|
(MedDRA:10038031)
|
Rectal atresia |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
|
15
|
(OMIM)
|
Radial anomalies |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Long, slim fingers |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased chromosomal breaks in response to cross-linking agents and ionizing radiation |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Defect in DNA repair |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Cellular arrest at G2 of the cell cycle |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
22
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|