|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000589)
|
Coloboma |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|
|
4
|
(HPO:0002006)
|
Facial cleft |
|
|
|
|
25 / 7739
|
|
5
|
(HPO:0006191)
|
Deep palmar crease |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
6
|
(OMIM)
|
Orofacial clefting, oblique |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Oromedial-canthal clefting |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Ocular hypoplasia (1 patient) |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Calcaneovarus (1 patient) |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|