|
1
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
2
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0002270)
|
Abnormality of the autonomic nervous system |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0004389)
|
Intestinal pseudo-obstruction |
|
|
|
|
7 / 7739
|
|
7
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0011682)
|
Perimembranous ventricular septal defect |
|
|
|
|
6 / 7739
|
|
9
|
(HPO:0100580)
|
Barrett esophagus |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0100771)
|
Hypoperistalsis |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|
|
13
|
(OMIM)
|
Pulmonary valve stenosis, minimal |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Supravalvular pulmonary stenosis, minimal |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Visceral neuromyopathy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Pseudoobstruction |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0002247)
|
Duodenal atresia |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0100867)
|
Duodenal stenosis |
|
|
|
|
29 / 7739
|
|
19
|
(OMIM)
|
Barrett esophagus, long-segment |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Aperistalsis |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|