|
1
|
(HPO:0000010)
|
Recurrent urinary tract infections |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
6
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
8
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
9
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
13
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
14
|
(HPO:0009890)
|
High anterior hairline |
|
|
|
|
10 / 7739
|
|
15
|
(OMIM)
|
Tall forehead |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0009765)
|
Low hanging columella |
|
|
|
|
9 / 7739
|
|
17
|
(OMIM)
|
Thick vermilion of upper and lower lips |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Ventricular septal defect, membranous or muscular |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0008209)
|
Premature ovarian failure |
|
|
|
|
28 / 7739
|
|
20
|
(MedDRA:10014778)
|
Endometriosis |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
22
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
23
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
24
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
27
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
|
28
|
(HPO:0030127)
|
Endometriosis |
|
|
|
|
2 / 7739
|