|
1
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
3
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
Occasional [Orphanet]
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
7
|
(HPO:0002817)
|
Abnormality of the upper limb |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
10
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0001571)
|
Multiple impacted teeth |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0005863)
|
Type E brachydactyly |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0006587)
|
Straight clavicles |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0008848)
|
Moderately short stature |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
17
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|