|
1
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
2
|
(HPO:0001805)
|
Thick nail |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
3
|
(HPO:0100540)
|
Palpebral edema |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001083)
|
Ectopia lentis |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0000269)
|
Prominent occiput |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
7
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
9
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
10
|
(HPO:0007800)
|
Increased axial globe length |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0007970)
|
Congenital ptosis |
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0011039)
|
Abnormality of the helix |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
13
|
(OMIM)
|
Congenital blepharoptosis |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Abnormally long globes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Abnormally high upper eyelid creases |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Good levator function |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Levator aponeurosis disinsertion |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|