|
1
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
5
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
7
|
(HPO:0011927)
|
Short digit |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
9
|
(HPO:0000138)
|
Ovarian cyst |
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0000813)
|
Bicornuate uterus |
|
|
|
|
22 / 7739
|
|
11
|
(HPO:0001042)
|
High axial triradius |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
13
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
14
|
(HPO:0001804)
|
Hypoplastic fingernail |
|
|
|
|
62 / 7739
|
|
15
|
(HPO:0008714)
|
Ureterovesical stenosis |
|
|
|
|
10 / 7739
|
|
16
|
(OMIM)
|
Palmar flexion contractures |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Simple arches on all digits |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Stubby nose |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Protuberant upper lip |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Low-pitched, hoarse voice |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|