|
1
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
10
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
11
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0000939)
|
Osteoporosis |
rare [HPO:skoehler]
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
15
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
16
|
(HPO:0001363)
|
Craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
|
17
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
19
|
(HPO:0001519)
|
Disproportionate tall stature |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
|
20
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
|
21
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
22
|
(HPO:0001634)
|
Mitral valve prolapse |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
24
|
(HPO:0001647)
|
Bicuspid aortic valve |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
26
|
(HPO:0002308)
|
Arnold-Chiari malformation |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
|
27
|
(HPO:0002631)
|
Ascending aortic aneurysm |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
29
|
(HPO:0004933)
|
Ascending aortic dissection |
|
|
|
|
6 / 7739
|
|
30
|
(HPO:0004937)
|
Pulmonary artery aneurysm |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0004944)
|
Cerebral aneurysm |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
32
|
(HPO:0004954)
|
Descending aortic aneurysm |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0004955)
|
Generalized arterial tortuosity |
|
|
|
|
7 / 7739
|
|
34
|
(HPO:0005182)
|
Bicuspid pulmonary valve |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
36
|
(HPO:0010648)
|
Dermal translucency |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
38
|
(HPO:0100259)
|
Postaxial polydactyly |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
39
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
40
|
(OMIM)
|
Low-impact fractures (in some patients) |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
|
42
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
|
43
|
(OMIM)
|
Velvety texture |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
46
|
(HPO:0000023)
|
Inguinal hernia |
rare [HPO:skoehler]
|
|
|
|
181 / 7739
|
|
47
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
48
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
49
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
50
|
(HPO:0005807)
|
Absent distal phalanges |
rare [HPO:skoehler]
|
|
|
|
4 / 7739
|