1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
2
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
3
|
(HPO:0001182)
|
Tapered finger |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
4
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
5
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
7
|
(HPO:0000978)
|
Bruising susceptibility |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
8
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
9
|
(HPO:0000926)
|
Platyspondyly |
Frequent [Orphanet]
|
|
|
|
150 / 7739
|
10
|
(HPO:0000592)
|
Blue sclerae |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0010489)
|
Absent palmar crease |
Frequent [Orphanet]
|
|
|
|
5 / 7739
|
13
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
14
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
15
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
16
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
17
|
(HPO:0003394)
|
Muscle cramps |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
18
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
19
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
20
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
21
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
22
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
23
|
(HPO:0001073)
|
Cigarette-paper scars |
|
|
|
|
7 / 7739
|
24
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
25
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
26
|
(HPO:0005692)
|
Joint hyperflexibility |
|
|
|
|
20 / 7739
|
27
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
28
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
29
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
30
|
(HPO:0003071)
|
Flattened epiphysis |
|
|
|
|
14 / 7739
|
31
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
32
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
33
|
(HPO:0003393)
|
Thenar muscle atrophy |
|
|
|
|
10 / 7739
|
34
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
35
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
36
|
(HPO:0008848)
|
Moderately short stature |
|
|
|
|
6 / 7739
|
37
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
38
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
39
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
40
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
41
|
(OMIM)
|
Birthweight at or below 3rd centile |
|
|
|
|
1 / 7739
|
42
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
43
|
(OMIM)
|
Protuberant eyes |
|
|
|
|
3 / 7739
|
44
|
(OMIM)
|
Corneal diameter, normal |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Small ilia |
|
|
|
|
5 / 7739
|
46
|
(OMIM)
|
Short wide femoral neck |
|
|
|
|
3 / 7739
|
47
|
(OMIM)
|
Mildly flattened proximal femoral epiphyses |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Small joint laxity |
|
|
|
|
2 / 7739
|
49
|
(OMIM)
|
Slender, tapered fingers |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Finely wrinkled palms |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Hypothenar muscle atrophy |
|
|
|
|
2 / 7739
|
52
|
(OMIM)
|
Inability to adduct thumbs |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Velvety, smooth skin |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Prominent veins |
|
|
|
|
3 / 7739
|
55
|
(OMIM)
|
Delayed wound healing |
|
|
|
|
5 / 7739
|
56
|
(OMIM)
|
Lysyl pyridinoline/hydroxylysyl pyridinoline (LP/HP) ratio approximately 1 |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Normal lysyl hydroxylase activity |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Normal prolyl 4-hydroxylase activity |
|
|
|
|
1 / 7739
|
59
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
60
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|