1
|
(HPO:0000076)
|
Vesicoureteral reflux |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
Rare [HPO]
|
|
|
|
372 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
5
|
(HPO:0001734)
|
Annular pancreas |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
6
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
7
|
(HPO:0002101)
|
Abnormal lung lobation |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
8
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
9
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
10
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
11
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
12
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
13
|
(HPO:0100800)
|
Aplasia/Hypoplasia of the pancreas |
Occasional [Orphanet]
|
|
|
|
8 / 7739
|
14
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
15
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
16
|
(HPO:0001602)
|
Laryngeal stenosis |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
17
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
18
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
19
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
20
|
(HPO:0000357)
|
Abnormal location of ears |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
24
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
25
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
26
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
27
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
28
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
29
|
(HPO:0000125)
|
Pelvic kidney |
|
|
|
|
10 / 7739
|
30
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
31
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
32
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
33
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
34
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
35
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
36
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
37
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
38
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
39
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
40
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
41
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
42
|
(HPO:0001660)
|
Truncus arteriosus |
Rare [HPO]
|
|
|
|
21 / 7739
|
43
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
44
|
(HPO:0001750)
|
Single ventricle |
|
|
|
|
3 / 7739
|
45
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
46
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
47
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
48
|
(HPO:0002627)
|
Right aortic arch with mirror image branching |
|
|
|
|
5 / 7739
|
49
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
50
|
(HPO:0004712)
|
Renal malrotation |
|
|
|
|
6 / 7739
|
51
|
(HPO:0004935)
|
Pulmonary artery atresia |
|
|
|
|
12 / 7739
|
52
|
(HPO:0005156)
|
Hypoplastic left atrium |
|
|
|
|
3 / 7739
|
53
|
(HPO:0005311)
|
Agenesis of pulmonary vessels |
|
|
|
|
2 / 7739
|
54
|
(HPO:0005944)
|
Bilateral lung agenesis |
|
|
|
|
4 / 7739
|
55
|
(HPO:0006270)
|
Hypoplastic spleen |
|
|
|
|
4 / 7739
|
56
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
57
|
(HPO:0009110)
|
Diaphragmatic eventration |
|
|
|
|
8 / 7739
|