|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
6
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
10
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
11
|
(HPO:0001176)
|
Large hands |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
13
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
14
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
15
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
16
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
17
|
(HPO:0000895)
|
Lateral clavicle hook |
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0000907)
|
Anterior rib cupping |
|
|
|
|
12 / 7739
|
|
19
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
20
|
(HPO:0001059)
|
Pterygium |
|
|
|
|
16 / 7739
|
|
21
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
22
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
23
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
24
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
25
|
(HPO:0002986)
|
Radial bowing |
|
|
|
|
27 / 7739
|
|
26
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
27
|
(HPO:0003031)
|
Ulnar bowing |
|
|
11140840
|
IBIS
|
16 / 7739
|
|
28
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
|
29
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
|
30
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
31
|
(HPO:0005009)
|
Dumbbell-shaped humerus |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
33
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
34
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
35
|
(HPO:0010561)
|
Undulate ribs |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Short, wavy ribs |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Anteriorly cupped ribs |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Short, wide iliac wings |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Bowed limbs (lower greater than upper limbs) |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Severe micromelia |
|
|
|
|
5 / 7739
|
|
41
|
(OMIM)
|
Short, curved femora |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Short, dumbbell-shaped humeri |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Dimples (chin, buttocks) |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
45
|
(HPO:0200040)
|
Epidermoid cyst |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
46
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
47
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
48
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
50
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
51
|
(HPO:0003865)
|
Bowed humerus |
|
|
|
|
5 / 7739
|