|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
5
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
6
|
(HPO:0002323)
|
Anencephaly |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
10
|
(OMIM)
|
Duplication of the hallux |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0002139)
|
Arrhinencephaly |
|
|
|
|
13 / 7739
|
|
13
|
(OMIM)
|
Malformations of the mid- and hindbrain |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|