|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
4
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0011302)
|
Long palm |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
6
|
(HPO:0001654)
|
Abnormality of the heart valves |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
7
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0001519)
|
Disproportionate tall stature |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0002097)
|
Emphysema |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0003394)
|
Muscle cramps |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
12
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
13
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
14
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
15
|
(OMIM)
|
Mild elbow, hip, and knee contractures |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Deficiency of laminin in basement membranes |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|