|
1
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0004442)
|
Sagittal craniosynostosis |
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
13
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
15
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|