1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
2
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
3
|
(HPO:0002832)
|
Calcific stippling |
|
|
|
|
5 / 7739
|
4
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
5
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
6
|
(HPO:0005736)
|
Short tibia |
|
|
|
|
19 / 7739
|
7
|
(HPO:0010038)
|
Short 2nd metacarpal |
|
|
|
|
2 / 7739
|
8
|
(HPO:0010041)
|
Short 3rd metacarpal |
|
|
|
|
5 / 7739
|
9
|
(HPO:0010044)
|
Short 4th metacarpal |
Occasional [HPO:probinson]
|
|
|
|
14 / 7739
|
10
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
9719382
|
IBIS
|
32 / 7739
|
11
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
12
|
(OMIM)
|
Coronal clefts of vertebral bodies |
|
|
|
|
1 / 7739
|
13
|
(OMIM)
|
Short second and third or third and fourth metacarpals |
|
|
|
|
1 / 7739
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
15
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|