|
1
|
(HPO:0000319)
|
Smooth philtrum |
rare [HPO:skoehler]
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
rare [HPO:skoehler]
|
|
|
|
163 / 7739
|
|
4
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
rare [HPO:skoehler]
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
rare [HPO:skoehler]
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000565)
|
Esotropia |
rare [HPO:skoehler]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
9
|
(HPO:0011800)
|
Midface retrusion |
rare [HPO:skoehler]
|
|
|
|
221 / 7739
|
|
10
|
(OMIM)
|
Facial paresis, congenital bilateral |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
12
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
13
|
(OMIM)
|
Hearing loss, sensorineural, mild to moderate |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|