|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
7
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0001087)
|
Congenital glaucoma |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
15
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0007392)
|
Excessive wrinkled skin |
|
|
|
|
2 / 7739
|
|
17
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
18
|
(HPO:0010648)
|
Dermal translucency |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|