|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000048)
|
Bifid scrotum |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
6
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
11
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
12
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0006712)
|
Aplasia/Hypoplasia of the ribs |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
22
|
(OMIM)
|
Wide, webbed neck |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hypersegmented sternum |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Widely spaced sutures |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0009700)
|
Finger symphalangism |
|
|
|
|
55 / 7739
|
|
26
|
(HPO:0010621)
|
Cutaneous syndactyly of toes |
|
|
|
|
36 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|