|
1
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
|
2
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
9
|
(HPO:0001433)
|
Hepatosplenomegaly |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
11
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
12
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
13
|
(OMIM)
|
Open metopic suture |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Overfolded superior helix |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Deficient auricle |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Megalophthalmos |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Prenatal teeth |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Decreased mineralization of inferior margin of scapula |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Diminished mineralization of the calvarium |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Narrow acetabular roof |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Narrowed ischia |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased mineralization of pubis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Bending of long bones to varying degrees, particularly femora |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Prominent periosteum |
|
|
|
|
1 / 7739
|
|
25
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
26
|
(OMIM)
|
Areas of periosteal reaction |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Areas of deficient ossification |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Hepatosplenomegaly, with extramedullary hematopoiesis (rare) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
30
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|