|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
3
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0001116)
|
Macular coloboma |
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
7
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
9
|
(HPO:0005001)
|
Recurrent patellar dislocation |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0009184)
|
Contracture of the distal interphalangeal joint of the 5th finger |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Flexion deformity of fifth finger distal interphalangeal joint |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Short 2nd and 4th digits |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|