|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
3
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
6
|
(MedDRA:10013799)
|
Duane's syndrome |
|
|
|
|
2 / 7739
|
|
7
|
(OMIM)
|
Deletion of 8q12.2-q21.2 |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Trapezius muscle aplasia |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Branchiootorenal (BOR) syndrome |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0001452)
|
Autosomal dominant contiguous gene syndrome |
|
|
|
|
4 / 7739
|