|
1
|
(HPO:0000308)
|
Microretrognathia |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
Occasional [Orphanet]
|
|
|
|
147 / 7739
|
|
4
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
7
|
(HPO:0001653)
|
Mitral regurgitation |
|
|
|
|
64 / 7739
|
|
8
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
9
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
10
|
(HPO:0000337)
|
Broad forehead |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
13
|
(HPO:0000322)
|
Short philtrum |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
14
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
16
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
17
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0011675)
|
Arrhythmia |
Occasional [Orphanet]
|
|
|
|
226 / 7739
|
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
20
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
21
|
(HPO:0001065)
|
Striae distensae |
|
|
|
|
26 / 7739
|
|
22
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
23
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
24
|
(HPO:0001702)
|
Abnormality of the tricuspid valve |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
26
|
(HPO:0008433)
|
Reversed usual vertebral column curves |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Mild dolichostenomelia |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Fibromyxomatous degeneration usual on histopathology |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Stretched mitral annulus |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Striae atrophica |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Midsystolic, nonejection click |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Holo- or late-systolic mitral regurgitation murmur |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Mild pectus excavatum |
|
|
|
|
5 / 7739
|
|
34
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|