|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
|
3
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0003042)
|
Elbow dislocation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
|
6
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
7
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
10
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
11
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
12
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
13
|
(HPO:0005680)
|
Tongue-like lumbar vertebral deformities |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
16
|
(OMIM)
|
Pseudodiastrophic dysplasia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Interphalangeal and metacarpophalangeal joint dislocations |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Severe clubfoot |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
C1-C2 dislocation |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Marked lumbar lordosis |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal first metacarpal |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Growth cartilage histology quite different from diastrophic dysplasia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Enlarged bitemporal diameter |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
26
|
(HPO:0006243)
|
Phalangeal dislocation |
|
|
|
|
3 / 7739
|