|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
5
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
7
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0003031)
|
Ulnar bowing |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0005011)
|
Mesomelic arm shortening |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
12
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
13
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
14
|
(OMIM)
|
Prominent lobules |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Glomerulocystic dysplasia |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Short, broad, radially bowed ulnae |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lateral bowing proximal femur |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Lateral bowing distal tibiae |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Short, thin fibulae |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
21
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|