|
1
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
2
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
3
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
4
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
5
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
6
|
(HPO:0007787)
|
Posterior subcapsular cataract |
rare [HPO:skoehler]
|
|
|
|
20 / 7739
|
|
7
|
(OMIM)
|
Myopic chorioretinal degeneration |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Mild depression and delay in both scotopic and photopic function on electroretinography |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Fine punctate lens opacities (in some patients) |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|