|
1
|
(HPO:0001305)
|
Dandy-Walker malformation |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
2
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
5
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000930)
|
Elevated imprint of the transverse sinuses |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0000931)
|
Thinning and bulging of the posterior fossa bones |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0000933)
|
Posterior fossa cyst at the fourth ventricle |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
16
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
17
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
18
|
(HPO:0002078)
|
Truncal ataxia |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
|
21
|
(HPO:0002951)
|
Partial absence of cerebellar vermis |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
23
|
(HPO:0006824)
|
Cranial nerve paralysis |
|
|
|
|
81 / 7739
|
|
24
|
(OMIM)
|
Small palpebral fissures |
|
|
|
|
6 / 7739
|
|
25
|
(OMIM)
|
Pale optic nerves |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Fleshy tumors of the tongue (rare) |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Aortic valve dysplasia, moderate |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Aortic stenosis, mild |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Aortic stenosis, severe (rare) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Discrete dilatation of the right kidney pelvis (rare) |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
32
|
(OMIM)
|
Posterior fossa cyst continuous with the fourth ventricle |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Partial or complete absence of the cerebellar vermis consistent with Dandy Walker malformation |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Dilatation of the lateral and third ventricles |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|