1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
2
|
(HPO:0001519)
|
Disproportionate tall stature |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
3
|
(HPO:0001724)
|
Aortic dilatation |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
4
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
5
|
(HPO:0000356)
|
Abnormality of the outer ear |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
6
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
7
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
9
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
11
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
12
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
13
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
14
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
15
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
16
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
18
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
19
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
21
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
|
|
31 / 7739
|
22
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
23
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
24
|
(HPO:0000347)
|
Micrognathia |
27% [HPO:probinson]
|
|
|
|
426 / 7739
|
25
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
26
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
27
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
28
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
29
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
30
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
31
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
32
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
33
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
34
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
35
|
(HPO:0001647)
|
Bicuspid aortic valve |
|
|
|
|
34 / 7739
|
36
|
(HPO:0001762)
|
Talipes equinovarus |
32 % [HPO:probinson]
|
|
|
|
309 / 7739
|
37
|
(HPO:0004696)
|
Talipes cavus equinovarus |
|
|
|
|
13 / 7739
|
38
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
39
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
40
|
(HPO:0002616)
|
Aortic root dilatation |
|
|
|
|
27 / 7739
|
41
|
(HPO:0002751)
|
Kyphoscoliosis |
45% [HPO:probinson]
|
|
|
|
131 / 7739
|
42
|
(HPO:0002987)
|
Elbow flexion contracture |
86% [HPO:probinson]
|
|
|
|
64 / 7739
|
43
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
44
|
(HPO:0003273)
|
Hip contracture |
25% [HPO:probinson]
|
|
|
|
30 / 7739
|
45
|
(HPO:0006380)
|
Knee flexion contracture |
81% [HPO:probinson]
|
|
|
|
56 / 7739
|
46
|
(HPO:0008453)
|
Congenital kyphoscoliosis |
|
|
|
|
1 / 7739
|
47
|
(HPO:0008962)
|
Calf muscle hypoplasia |
|
|
|
|
1 / 7739
|
48
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
49
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
50
|
(HPO:0009901)
|
Crumpled ear |
78% [HPO:probinson]
|
|
|
|
1 / 7739
|
51
|
(HPO:0010499)
|
Patellar subluxation |
|
|
|
|
3 / 7739
|
52
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
53
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
54
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
55
|
(OMIM)
|
Prominent crura |
|
|
|
|
1 / 7739
|
56
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
57
|
(OMIM)
|
Relatively short neck |
|
|
|
|
1 / 7739
|
58
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
59
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
60
|
(HPO:0004684)
|
Talipes valgus |
|
|
|
|
28 / 7739
|
61
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
62
|
(HPO:0003011)
|
Abnormality of the musculature |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
63
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|