|
1
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0012231)
|
Exudative retinal detachment |
|
|
|
|
3 / 7739
|
|
3
|
(OMIM)
|
Retinal arterial beading along all 4 retinal arterial trunks |
|
|
|
|
1 / 7739
|
|
4
|
(OMIM)
|
Retinal arterial macroaneurysms, multiple, developing at sites of beading |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Exudative maculopathy |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Hemorrhage beneath internal limiting membrane due to leaking macroaneurysms |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Pigmentary changes, retinal and/or subretinal (in some patients) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Vascular sheathing (in some patients) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Pulmonic stenosis, supravalvular |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|