|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
|
3
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
10
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
13
|
(HPO:0012386)
|
Absent hallux |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hypoplasia of the halluces |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Delayed development may occur |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Cognitive deficits may occur |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|