|
1
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
|
2
|
(HPO:0100673)
|
Vaginal hydrocele |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0000085)
|
Horseshoe kidney |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000151)
|
Aplasia of the uterus |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
10
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
11
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
12
|
(HPO:0008648)
|
Anteriorly displaced urethral meatus |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
14
|
(OMIM)
|
Micrognathia, mild |
|
|
|
|
8 / 7739
|
|
15
|
(OMIM)
|
Inguinal testes |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Mullerian duct hypoplasia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Growth retardation, severe (if untreated) |
|
|
|
|
5 / 7739
|
|
18
|
(OMIM)
|
Developmental retardation, severe |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|