|
1
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
2
|
(OMIM)
|
Truncated ulnar styloid process |
|
|
|
|
1 / 7739
|
|
3
|
(OMIM)
|
Normally developed fibula |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Shortening of middle phalanges of digits 2 to 5 |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Shortening of first distal phalanx |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Shortening of first metacarpal |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Third to fifth metacarpals less shortened |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Shortening of first metatarsal |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Third to fifth metatarsals less shortened |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Clubfeet (in some patients) <2 of 3 sibs |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|