|
1
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
|
2
|
(HPO:0000062)
|
Ambiguous genitalia |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
|
3
|
(HPO:0000105)
|
Enlarged kidneys |
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
|
8
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
9
|
(HPO:0001274)
|
Agenesis of corpus callosum |
rare [HPO:skoehler]
|
|
|
|
142 / 7739
|
|
10
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
|
11
|
(HPO:0002023)
|
Anal atresia |
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
12
|
(HPO:0002350)
|
Cerebellar cyst |
rare [HPO:skoehler]
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0002566)
|
Intestinal malrotation |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
16
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
17
|
(HPO:0003022)
|
Hypoplasia of the ulna |
rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
|
18
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0003038)
|
Fibular hypoplasia |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0005054)
|
Metaphyseal spurs |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0010297)
|
Bifid tongue |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
22
|
(HPO:0010454)
|
Acetabular spurs |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
24
|
(HPO:0100258)
|
Preaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
25
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(OMIM)
|
Respiratory problems due to small thorax |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Shortened ribs |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Handlebar clavicles |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Small ilia |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Shortened femurs |
|
|
|
|
2 / 7739
|
|
32
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
33
|
(OMIM)
|
No polydactyly |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Defect in retrograde intraflagellar transport in cilia |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
37
|
(HPO:0000204)
|
Cleft upper lip |
rare [HPO:skoehler]
|
|
|
|
193 / 7739
|
|
38
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
|
39
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
40
|
(HPO:0009556)
|
Absent tibia |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0010984)
|
Digenic inheritance |
|
|
|
|
4 / 7739
|