|
1
|
(HPO:0000242)
|
Parietal bossing |
|
|
|
|
11 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
|
8
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0000871)
|
Panhypopituitarism |
|
|
|
|
8 / 7739
|
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
12
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
13
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002507)
|
Semilobar holoprosencephaly |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0002744)
|
Bilateral cleft lip and palate |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0004122)
|
Midline defect of the nose |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0005273)
|
Absent nasal septal cartilage |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0005326)
|
Hypoplastic philtrum |
|
|
|
|
4 / 7739
|
|
21
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0006315)
|
Single median maxillary incisor |
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
|
24
|
(HPO:0008501)
|
Median cleft lip and palate |
|
|
|
|
7 / 7739
|
|
25
|
(HPO:0010649)
|
Flat nasal alae |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
|
|
|
|
39 / 7739
|
|
27
|
(HPO:0010663)
|
Abnormality of thalamus morphology |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|