|
1
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
2
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
3
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
4
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
|
6
|
(HPO:0004632)
|
Cervical segmentation defect |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0006655)
|
Rib segmentation abnormalities |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0008952)
|
Shoulder muscle hypoplasia |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0008984)
|
Neck muscle hypoplasia |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Omovertebral bone/band (25-50% patients) |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0100563)
|
Diastomatomyelia |
|
|
|
|
4 / 7739
|
|
12
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
14
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|