|
1
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0001582)
|
Redundant skin |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Occasional [Orphanet]
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Occasional [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
11
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0007495)
|
Prematurely aged appearance |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0000482)
|
Microcornea |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
15
|
(HPO:0000478)
|
Abnormality of the eye |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
16
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
17
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
18
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
19
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
20
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
21
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
24
|
(HPO:0001763)
|
Pes planus |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
25
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
26
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
|
27
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
28
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
29
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
30
|
(OMIM)
|
Droopy, jowled facies |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Growth rings |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Fracture susceptible |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Precocious aging |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
39
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
40
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
41
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
42
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
43
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
44
|
(HPO:0001187)
|
Hyperextensibility of the finger joints |
|
|
|
|
12 / 7739
|
|
45
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
46
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
|
47
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
48
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|