1
|
(HPO:0000073)
|
Ureteral duplication |
|
|
|
|
11 / 7739
|
2
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
4
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
6
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
9
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
11
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
12
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
13
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
14
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
15
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
16
|
(HPO:0002110)
|
Bronchiectasis |
|
|
|
|
73 / 7739
|
17
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
18
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
19
|
(HPO:0002863)
|
Myelodysplasia |
|
|
|
|
30 / 7739
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
21
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
22
|
(HPO:0004808)
|
Acute myeloid leukemia |
|
|
|
|
14 / 7739
|
23
|
(HPO:0005180)
|
Tricuspid regurgitation |
|
|
|
|
20 / 7739
|
24
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
25
|
(HPO:0007522)
|
Increased number of skin folds |
|
|
|
|
1 / 7739
|
26
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
27
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
28
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
29
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
30
|
(OMIM)
|
Bifid ureter |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Anemia, mild |
|
|
|
|
6 / 7739
|
32
|
(MedDRA:10068026)
|
Sweat test normal |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Normal constitutional karyotype |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Abnormal bone marrow karyotype, t(8,21) |
|
|
|
|
1 / 7739
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
36
|
(HPO:0030037)
|
Bifid ureter |
|
|
|
|
2 / 7739
|