|
1
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
2
|
(HPO:0000215)
|
Thick upper lip vermilion |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000289)
|
Broad philtrum |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
10
|
(HPO:0005715)
|
Flattened knee epiphyses |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Progressive narrowing of lumbar spinal interpedicular distance |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Broad nasal root and tip |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Short broad philtrum |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|