|
1
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
2
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
3
|
(HPO:0003063)
|
Abnormality of the humerus |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0008905)
|
Rhizomelia |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
8
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
9
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
10
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
11
|
(HPO:0000456)
|
Bifid nasal tip |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
13
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
14
|
(HPO:0004991)
|
Rhizomelic arm shortening |
|
|
|
|
2 / 7739
|
|
15
|
(HPO:0005025)
|
Hypoplastic distal humeri |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0005060)
|
Limited elbow flexion/extension |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
18
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|