|
1
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0000122)
|
Unilateral renal agenesis |
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
5
|
(HPO:0000458)
|
Anosmia |
|
|
|
|
49 / 7739
|
|
6
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
7
|
(OMIM)
|
Midline cranial fusion defect |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
11
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
14
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|