|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001491)
|
Congenital fibrosis of extraocular muscles |
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0007867)
|
Restrictive partial external ophthalmoplegia |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0007911)
|
Congenital bilateral ptosis |
|
|
|
|
2 / 7739
|
|
9
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
10
|
(OMIM)
|
Restrictive partial ophthalmoplegia |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Inability to raise eyes above horizontal midline |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Balanced/unbalanced chromosomal translocation t(2,13)(q36,q11) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|