|
1
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
2
|
(HPO:0000600)
|
Abnormality of the pharynx |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
3
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0000496)
|
Abnormality of eye movement |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
5
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
6
|
(HPO:0002691)
|
Platybasia |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
7
|
(HPO:0002277)
|
Horner syndrome |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0003396)
|
Syringomyelia |
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0004484)
|
Craniofacial asymmetry |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0005758)
|
Basilar impression |
|
|
|
|
6 / 7739
|
|
13
|
(HPO:0005788)
|
Abnormal cervical myelogram |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hypoplasia of cervical paravertebral muscles |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Invagination of the foramen magnum upward into the posterior cranial fossa |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Translocation of the upper cervical vertebrae into the cranial depression |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Occipitalization of the atlas |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Base of the skull is flattened on the cervical spine |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Neurologic symptoms, if present, usually result from associated syringomyelia |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
22
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|