|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
12
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
13
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0004971)
|
Pulmonary artery hypoplasia |
|
|
|
|
15 / 7739
|
|
16
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
17
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
|
18
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0001660)
|
Truncus arteriosus |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0001669)
|
Transposition of the great arteries |
|
|
|
|
36 / 7739
|
|
21
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0002594)
|
Pancreatic hypoplasia |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0003074)
|
Hyperglycemia |
|
|
|
|
37 / 7739
|
|
24
|
(HPO:0003076)
|
Glycosuria |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0004388)
|
Microcolon |
|
|
|
|
5 / 7739
|
|
26
|
(HPO:0005210)
|
Hypoplastic colon |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0005912)
|
Biliary atresia |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0011611)
|
Interrupted aortic arch |
|
|
|
|
10 / 7739
|
|
29
|
(HPO:0011682)
|
Perimembranous ventricular septal defect |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
31
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
32
|
(HPO:0011623)
|
Muscular ventricular septal defect |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Right ventricular hypoplasia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0011581)
|
Double outlet left ventricle |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Tricuspid valve hypoplasia |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Pulmonary valvular stenosis |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Hypoplastic pulmonary artery |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Pulmonary artery stenosis, bilateral branch |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Diaphragmatic hernia, left (rare) |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
41
|
(OMIM)
|
Hepatic inflammation |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Pancreatic agenesis or severe hypoplasia |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Gall bladder agenesis |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0005242)
|
Extrahepatic biliary duct atresia |
|
|
|
|
9 / 7739
|
|
45
|
(OMIM)
|
Colon perforation (rare) |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
47
|
(OMIM)
|
Pituitary agenesis |
|
|
|
|
3 / 7739
|
|
48
|
(OMIM)
|
Exocrine pancreatic deficiency |
|
|
|
|
6 / 7739
|
|
49
|
(OMIM)
|
Transient hypothyroidism (in some patients) |
|
|
|
|
1 / 7739
|