|
1
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0002691)
|
Platybasia |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
5
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
8
|
(HPO:0000079)
|
Abnormality of the urinary system |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0000930)
|
Elevated imprint of the transverse sinuses |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0000931)
|
Thinning and bulging of the posterior fossa bones |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0000933)
|
Posterior fossa cyst at the fourth ventricle |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0002951)
|
Partial absence of cerebellar vermis |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
19
|
(OMIM)
|
Partial or complete absence of cerebellar vermis |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Bulging occiput |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
22
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
23
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
24
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|