|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0000636)
|
Upper eyelid coloboma |
|
|
|
|
7 / 7739
|
|
9
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0002006)
|
Facial cleft |
|
|
|
|
25 / 7739
|
|
12
|
(HPO:0002057)
|
Prominent glabella |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|