1
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
2
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
3
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
4
|
(HPO:0000767)
|
Pectus excavatum |
rare [HPO:skoehler]
|
|
|
|
244 / 7739
|
5
|
(HPO:0000915)
|
Pectus excavatum of inferior sternum |
|
|
|
|
21 / 7739
|
6
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
7
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
8
|
(HPO:0000974)
|
Hyperextensible skin |
|
|
|
|
59 / 7739
|
9
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
10
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
11
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
12
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
13
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
14
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
15
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
16
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
17
|
(HPO:0009702)
|
Carpal synostosis |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
18
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
19
|
(HPO:0011341)
|
Long upper lip |
|
|
|
|
5 / 7739
|
20
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
21
|
(OMIM)
|
Large joint laxity |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Anterior beak of vertebral body |
|
|
|
|
2 / 7739
|
23
|
(OMIM)
|
Short ilia |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Prominent lesser trochanter |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Restricted elbow movement |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Elbow malalignment |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Epiphyseal dysplasia of femoral head |
|
|
|
|
2 / 7739
|
28
|
(OMIM)
|
Spatulate finger |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Finger laxity |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Hand contracture (rare) |
|
|
|
|
2 / 7739
|
31
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
32
|
(OMIM)
|
Doughy skin |
|
|
|
|
2 / 7739
|
33
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
34
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
35
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
36
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|