|
1
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
2
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
3
|
(HPO:0001477)
|
Compensatory chin elevation |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0001491)
|
Congenital fibrosis of extraocular muscles |
|
|
|
|
9 / 7739
|
|
5
|
(HPO:0004231)
|
Carpal bone aplasia |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0006210)
|
Postaxial oligodactyly |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0007831)
|
Nonprogressive restrictive external ophthalmoplegia |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0007936)
|
Restrictive external ophthalmoplegia |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
10
|
(OMIM)
|
Unilateral (right eye) involvement |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Nonprogressive restrictive ophthalmoplegia (superior rectus, inferior oblique, levator palpebralis dysfunction) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Bilateral postaxial oligodactyly/oligosyndactyly (right side affected greater than left) |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|