|
1
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
3
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0000540)
|
Hypermetropia |
rare [HPO:skoehler]
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0008499)
|
High-grade hypermetropia |
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
|
7
|
(HPO:0007765)
|
Deep anterior chamber |
rare [HPO:skoehler]
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0100693)
|
Iridodonesis |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Increased arm-span-to-height ratio (rare) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Decreased upper-to-lower body ratio (rare) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Microspherophakia |
|
|
|
|
7 / 7739
|
|
12
|
(OMIM)
|
Myopia, axial |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
14
|
(HPO:0007906)
|
Increased intraocular pressure |
|
|
|
|
30 / 7739
|
|
15
|
(OMIM)
|
Flat anterior chamber (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Retinal detachment, postsurgical (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normal gums |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
19
|
(OMIM)
|
Mild pectus excavatum |
|
|
|
|
5 / 7739
|
|
20
|
(OMIM)
|
Normal skin |
|
|
|
|
5 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|