1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
3
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
4
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
5
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
6
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
7
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
9
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
10
|
(HPO:0009803)
|
Short phalanx of finger |
typical [HPO]
|
|
12121354
|
IBIS
|
79 / 7739
|
11
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
12
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
13
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
14
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
15
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
16
|
(HPO:0001772)
|
Talipes equinovalgus |
frequent [HPO]
|
|
|
|
7 / 7739
|
17
|
(HPO:0001792)
|
Small nail |
typical [HPO]
|
|
12121354
|
IBIS
|
55 / 7739
|
18
|
(HPO:0002990)
|
Fibular aplasia |
hallmark [HPO]
|
|
2363425
|
IBIS
|
16 / 7739
|
19
|
(HPO:0002999)
|
Patellar dislocation |
typical [HPO]
|
|
12121354
|
IBIS
|
46 / 7739
|
20
|
(HPO:0004097)
|
Deviation of finger |
typical [HPO]
|
|
12121354
|
IBIS
|
13 / 7739
|
21
|
(HPO:0006092)
|
Malaligned carpal bone |
typical [HPO]
|
|
12121354
|
IBIS
|
1 / 7739
|
22
|
(HPO:0008119)
|
Deformed tarsal bones |
typical [HPO]
|
|
12121354
|
IBIS
|
1 / 7739
|
23
|
(HPO:0008905)
|
Rhizomelia |
frequent [HPO]
|
|
12121354
|
IBIS
|
85 / 7739
|
24
|
(HPO:0005720)
|
Shortening of all metacarpals |
|
|
|
|
12 / 7739
|
25
|
(HPO:0010049)
|
Short metacarpal |
typical [HPO]
|
|
12121354
|
IBIS
|
99 / 7739
|
26
|
(HPO:0010624)
|
Aplastic/hypoplastic toenail |
|
|
|
|
3 / 7739
|
27
|
(HPO:0004686)
|
Short third metatarsal |
|
|
|
|
9 / 7739
|
28
|
(HPO:0010743)
|
Short metatarsal |
typical [HPO]
|
|
12121354
|
IBIS
|
56 / 7739
|
29
|
(HPO:0010760)
|
Absent toe |
typical [HPO]
|
|
12121354
|
IBIS
|
15 / 7739
|
30
|
(OMIM)
|
Displaced patella |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Brachydactyly, complex |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Mild hand shortness |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Ball-like toes |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Absent-rudimentary phalanges |
|
|
|
|
1 / 7739
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
36
|
(HPO:0001156)
|
Brachydactyly syndrome |
hallmark [HPO]
|
|
|
|
180 / 7739
|
37
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|