|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0000627)
|
Posterior embryotoxon |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
10
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
11
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
12
|
(HPO:0007676)
|
Hypoplasia of the iris |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0009918)
|
Ectopia pupillae |
|
|
|
|
6 / 7739
|
|
14
|
(HPO:0011120)
|
Concave nasal ridge |
|
|
|
|
9 / 7739
|
|
15
|
(OMIM)
|
Anteriorly displaced eyes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Schwalbe line (posterior embryotoxon) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Iris strands attached to Schwalbe line bridging the iridocorneal angle |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Valvular defects |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Umbilical defect (redundant periumbilical skin) |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
22
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|