|
1
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0003028)
|
Abnormality of the ankles |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
7
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
10
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0001373)
|
Joint dislocation |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
12
|
(HPO:0012095)
|
Multiple joint dislocation |
|
|
|
|
24 / 7739
|
|
13
|
(HPO:0002991)
|
Abnormality of the fibula |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
14
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
15
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0002777)
|
Tracheal stenosis |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
18
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
20
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
21
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
23
|
(HPO:0001601)
|
Laryngomalacia |
|
|
|
|
61 / 7739
|
|
24
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
26
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
27
|
(HPO:0008178)
|
Abnormal cartilage matrix |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0010444)
|
Pulmonary insufficiency |
|
|
|
|
11 / 7739
|
|
29
|
(HPO:0010490)
|
Abnormality of the palmar creases |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Abnormal dermal collagen bundles |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Collagen fiber dysmaturity |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
33
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|