1
|
(HPO:0002970)
|
Genu varum |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
2
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
3
|
(HPO:0002857)
|
Genu valgum |
Occasional [Orphanet]
|
|
|
|
144 / 7739
|
4
|
(HPO:0000505)
|
Visual impairment |
Frequent [Orphanet]
|
|
|
|
297 / 7739
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Very frequent [Orphanet]
|
|
|
|
164 / 7739
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
7
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
8
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
9
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
11
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
12
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
14
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
15
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
16
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
17
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
18
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
19
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
20
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
21
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
22
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
23
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
24
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
25
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
26
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
27
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
28
|
(HPO:0000887)
|
Cupped ribs |
|
|
|
|
9 / 7739
|
29
|
(HPO:0000911)
|
Flat glenoid fossa |
|
|
|
|
4 / 7739
|
30
|
(HPO:0001134)
|
Anterior polar cataract |
|
|
|
|
8 / 7739
|
31
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
32
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
33
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
34
|
(HPO:0001597)
|
Abnormality of the nail |
|
|
|
|
115 / 7739
|
35
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
36
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
37
|
(HPO:0003021)
|
Metaphyseal cupping |
|
|
|
|
16 / 7739
|
38
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
39
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
40
|
(HPO:0003796)
|
Irregular iliac crest |
|
|
|
|
2 / 7739
|
41
|
(HPO:0005899)
|
Metaphyseal dysostosis |
|
|
|
|
2 / 7739
|
42
|
(HPO:0006009)
|
Broad phalanx |
|
|
|
|
11 / 7739
|
43
|
(HPO:0006606)
|
Irregular chondrocostal junctions |
|
|
|
|
3 / 7739
|
44
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
45
|
(OMIM)
|
Small acromion processes |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Flattened pelvic inlet |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Small femoral necks |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Fibula longer than tibia |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Irregular, widened metaphyses |
|
|
|
|
2 / 7739
|
50
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
51
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
52
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
53
|
(OMIM)
|
Finger joint laxity |
|
|
|
|
2 / 7739
|
54
|
(OMIM)
|
Broad, short feet |
|
|
|
|
8 / 7739
|
55
|
(OMIM)
|
Small tarsals |
|
|
|
|
1 / 7739
|
56
|
(OMIM)
|
Squared-off nails |
|
|
|
|
1 / 7739
|
57
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
58
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
59
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
60
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
61
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|