1
|
(HPO:0001539)
|
Omphalocele |
Frequent [IBIS]
|
|
23719190; 8841187; 20503313; 10424811; 11106355; 9311734; 9311734; 11414765; 9311733; 25898929
|
IBIS
|
102 / 7739
|
2
|
(HPO:0001520)
|
Large for gestational age |
Frequent [IBIS]
|
|
8841187; 11414765
|
IBIS
|
34 / 7739
|
3
|
(HPO:0000158)
|
Macroglossia |
Frequent [IBIS]
|
|
8841187; 20503313; 9311734; 11414765; 9311733
|
IBIS
|
119 / 7739
|
4
|
(HPO:0001548)
|
Overgrowth |
Frequent [IBIS]
|
|
8841187; 20503313
|
IBIS
|
27 / 7739
|
5
|
(HPO:0000105)
|
Enlarged kidneys |
Frequent [IBIS]
|
|
20503313
|
IBIS
|
30 / 7739
|
6
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [IBIS]
|
|
20503313; 10424811; 9311734; 11414765
|
IBIS
|
131 / 7739
|
7
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [IBIS]
|
|
11414765; 9311733; 25898929
|
IBIS
|
85 / 7739
|
8
|
(HPO:0010866)
|
Abdominal wall defect |
Frequent [IBIS]
|
|
20503313; 10424811; 8841187
|
IBIS
|
5 / 7739
|
9
|
(HPO:0000271)
|
Abnormality of the face |
Frequent [IBIS]
|
|
11414765
|
IBIS
|
108 / 7739
|
10
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [IBIS]
|
|
8841187; 20503313; 10424811; 9311734; 25898929
|
IBIS
|
88 / 7739
|
11
|
(HPO:0001537)
|
Umbilical hernia |
Occasional [IBIS]
|
|
20503313; 10424811
|
IBIS
|
206 / 7739
|
12
|
(HPO:0003271)
|
Visceromegaly |
Occasional [IBIS]
|
|
10424811; 25898929
|
IBIS
|
8 / 7739
|
13
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [IBIS]
|
|
20503313; 25898929
|
IBIS
|
73 / 7739
|
14
|
(HPO:0001528)
|
Hemihypertrophy |
Rare [IBIS]
|
|
25898929
|
IBIS
|
13 / 7739
|
15
|
(HPO:0001540)
|
Diastasis recti |
Rare [IBIS]
|
|
25898929
|
IBIS
|
23 / 7739
|
16
|
(HPO:0002898)
|
Embryonal neoplasm |
Rare [IBIS]
|
|
25898929
|
IBIS
|
6 / 7739
|
17
|
(HPO:0000175)
|
Cleft palate |
|
|
23719190; 20503313; 25898929
|
IBIS
|
349 / 7739
|
18
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
8841187
|
IBIS
|
22 / 7739
|
19
|
(HPO:0009908)
|
Anterior creases of earlobe |
|
|
8841187; 20503313; 11414765
|
IBIS
|
10 / 7739
|
20
|
(HPO:0004464)
|
Postauricular pit |
|
|
20503313
|
IBIS
|
3 / 7739
|
21
|
(HPO:0002240)
|
Hepatomegaly |
|
|
20503313
|
IBIS
|
467 / 7739
|
22
|
(HPO:0001744)
|
Splenomegaly |
|
|
20503313
|
IBIS
|
337 / 7739
|
23
|
(HPO:0010442)
|
Polydactyly |
|
|
20503313
|
IBIS
|
69 / 7739
|
24
|
(HPO:0002104)
|
Apnea |
|
|
20503313
|
IBIS
|
106 / 7739
|
25
|
(HPO:0030025)
|
Auricular pit |
|
|
20503313; 9311734
|
IBIS
|
3 / 7739
|
26
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
20503313
|
IBIS
|
40 / 7739
|
27
|
(HPO:0000023)
|
Inguinal hernia |
|
|
20503313; 11414765
|
IBIS
|
181 / 7739
|
28
|
(HPO:0000107)
|
Renal cyst |
|
|
20503313
|
IBIS
|
126 / 7739
|
29
|
(OMIM)
|
Cutaneous vascular malformations |
|
|
20503313
|
IBIS
|
2 / 7739
|
30
|
(HPO:0011398)
|
Central hypotonia |
|
|
20503313
|
IBIS
|
12 / 7739
|
31
|
(HPO:0000047)
|
Hypospadias |
|
|
20503313
|
IBIS
|
250 / 7739
|
32
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
20503313
|
IBIS
|
316 / 7739
|
33
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
20503313
|
IBIS
|
228 / 7739
|
34
|
(HPO:0003765)
|
Psoriasis |
|
|
20503313
|
IBIS
|
17 / 7739
|
35
|
(HPO:0000028)
|
Cryptorchidism |
|
|
20503313; 9311734
|
IBIS
|
347 / 7739
|
36
|
(HPO:0000486)
|
Strabismus |
|
|
20503313
|
IBIS
|
576 / 7739
|
37
|
(HPO:0000363)
|
Abnormality of earlobe |
|
|
10424811; 9311734
|
IBIS
|
4 / 7739
|
38
|
(HPO:0004392)
|
Prune belly |
|
|
10424811
|
IBIS
|
4 / 7739
|
39
|
(OMIM)
|
Craniofacial anomalies |
|
|
9311734
|
IBIS
|
2 / 7739
|
40
|
(HPO:0003006)
|
Neuroblastoma |
|
|
9311734
|
IBIS
|
16 / 7739
|
41
|
(HPO:0002597)
|
Abnormality of the vasculature |
|
|
11414765
|
IBIS
|
5 / 7739
|
42
|
(HPO:0000280)
|
Coarse facial features |
|
|
11414765
|
IBIS
|
189 / 7739
|
43
|
(HPO:0002144)
|
Tethered cord |
|
|
11414765
|
IBIS
|
8 / 7739
|
44
|
(HPO:0003396)
|
Syringomyelia |
|
|
11414765
|
IBIS
|
16 / 7739
|
45
|
(HPO:0010609)
|
Skin tags |
|
|
11414765
|
IBIS
|
12 / 7739
|
46
|
(MedDRA:10061998)
|
Hepatic lesion |
|
|
11414765
|
IBIS
|
1 / 7739
|
47
|
(HPO:0001622)
|
Premature birth |
|
|
25898929
|
IBIS
|
100 / 7739
|