|
1
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
3
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0001595)
|
Abnormality of the hair |
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
10
|
(HPO:0005322)
|
Prominent nasal septum |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
13
|
(OMIM)
|
Normal mental development |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Midfacial hypoplasia |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Thin or absent scalp hair |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Postnatal growth delay |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|