1
|
(HPO:0001548)
|
Overgrowth |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
27 / 7739
|
2
|
(HPO:0000158)
|
Macroglossia |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
119 / 7739
|
3
|
(HPO:0001520)
|
Large for gestational age |
Frequent [IBIS]
|
|
17158821
|
IBIS
|
34 / 7739
|
4
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
108 / 7739
|
5
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [IBIS]
|
|
18245780
|
IBIS
|
88 / 7739
|
6
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [IBIS]
|
|
18245780
|
IBIS
|
73 / 7739
|
7
|
(HPO:0003271)
|
Visceromegaly |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
8 / 7739
|
8
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
85 / 7739
|
9
|
(HPO:0010866)
|
Abdominal wall defect |
Frequent [IBIS]
|
|
17158821; 18245780
|
IBIS
|
5 / 7739
|
10
|
(HPO:0001540)
|
Diastasis recti |
|
|
17158821; 18245780
|
IBIS
|
23 / 7739
|
11
|
(HPO:0001561)
|
Polyhydramnios |
|
|
17158821; 18245780
|
IBIS
|
191 / 7739
|
12
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
17158821
|
IBIS
|
30 / 7739
|
13
|
(HPO:0002667)
|
Nephroblastoma |
|
|
17158821; 18245780
|
IBIS
|
30 / 7739
|
14
|
(HPO:0001528)
|
Hemihypertrophy |
|
|
17158821; 18245780
|
IBIS
|
13 / 7739
|
15
|
(HPO:0002098)
|
Respiratory distress |
|
|
17158821
|
IBIS
|
75 / 7739
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
17158821
|
IBIS
|
316 / 7739
|
17
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
17158821
|
IBIS
|
228 / 7739
|
18
|
(HPO:0000252)
|
Microcephaly |
|
|
17158821
|
IBIS
|
832 / 7739
|
19
|
(HPO:0005306)
|
Capillary hemangiomas |
|
|
17158821
|
IBIS
|
8 / 7739
|
20
|
(HPO:0000293)
|
Full cheeks |
|
|
17158821
|
IBIS
|
85 / 7739
|
21
|
(HPO:0000520)
|
Proptosis |
|
|
17158821
|
IBIS
|
192 / 7739
|
22
|
(HPO:0009908)
|
Anterior creases of earlobe |
|
|
17158821; 18245780
|
IBIS
|
10 / 7739
|
23
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
17158821; 18245780
|
IBIS
|
22 / 7739
|
24
|
(HPO:0000324)
|
Facial asymmetry |
|
|
17158821; 18245780
|
IBIS
|
57 / 7739
|
25
|
(HPO:0001555)
|
Asymmetry of the thorax |
|
|
17158821
|
IBIS
|
15 / 7739
|
26
|
(HPO:0011342)
|
Mild global developmental delay |
|
|
17158821; 18245780
|
IBIS
|
10 / 7739
|
27
|
(HPO:0001622)
|
Premature birth |
|
|
17158821
|
IBIS
|
100 / 7739
|
28
|
(HPO:0005323)
|
Hemifacial hypertrophy |
|
|
17158821
|
IBIS
|
3 / 7739
|
29
|
(HPO:0000286)
|
Epicanthus |
|
|
17158821
|
IBIS
|
371 / 7739
|
30
|
(HPO:0000248)
|
Brachycephaly |
|
|
17158821
|
IBIS
|
222 / 7739
|
31
|
(HPO:0000534)
|
Abnormality of the eyebrow |
|
|
17158821
|
IBIS
|
39 / 7739
|
32
|
(HPO:0000664)
|
Synophrys |
|
|
17158821
|
IBIS
|
112 / 7739
|
33
|
(HPO:0000490)
|
Deeply set eye |
|
|
17158821
|
IBIS
|
131 / 7739
|
34
|
(HPO:0000448)
|
Prominent nose |
|
|
17158821
|
IBIS
|
56 / 7739
|
35
|
(HPO:0000272)
|
Malar flattening |
|
|
17158821
|
IBIS
|
277 / 7739
|
36
|
(HPO:0000175)
|
Cleft palate |
|
|
17158821
|
IBIS
|
349 / 7739
|
37
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
17158821
|
IBIS
|
291 / 7739
|
38
|
(HPO:0008523)
|
Posterior helix pit |
|
|
17158821
|
IBIS
|
2 / 7739
|
39
|
(HPO:0001537)
|
Umbilical hernia |
|
|
17158821; 18245780
|
IBIS
|
206 / 7739
|
40
|
(HPO:0001640)
|
Cardiomegaly |
|
|
17158821
|
IBIS
|
81 / 7739
|
41
|
(HPO:0001744)
|
Splenomegaly |
|
|
17158821; 18245780
|
IBIS
|
337 / 7739
|
42
|
(HPO:0002240)
|
Hepatomegaly |
|
|
17158821; 18245780
|
IBIS
|
467 / 7739
|
43
|
(HPO:0000028)
|
Cryptorchidism |
|
|
17158821
|
IBIS
|
347 / 7739
|
44
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
17158821
|
IBIS
|
179 / 7739
|
45
|
(HPO:0008676)
|
Congenital megaureter |
|
|
17158821
|
IBIS
|
3 / 7739
|
46
|
(HPO:0000790)
|
Hematuria |
|
|
17158821
|
IBIS
|
106 / 7739
|
47
|
(HPO:0000316)
|
Hypertelorism |
|
|
17158821
|
IBIS
|
644 / 7739
|
48
|
(HPO:0003270)
|
Abdominal distention |
|
|
17158821
|
IBIS
|
46 / 7739
|
49
|
(HPO:0000952)
|
Jaundice |
|
|
17158821
|
IBIS
|
105 / 7739
|
50
|
(HPO:0030025)
|
Auricular pit |
|
|
18245780
|
IBIS
|
3 / 7739
|
51
|
(HPO:0000069)
|
Abnormality of the ureter |
|
|
18245780
|
IBIS
|
47 / 7739
|