|
1
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0002970)
|
Genu varum |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
6
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
15
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
16
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
17
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
18
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
19
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0002645)
|
Wormian bones |
Occasional [Orphanet]
|
|
|
|
65 / 7739
|
|
21
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
22
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
23
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
24
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
25
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
26
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
27
|
(HPO:0002651)
|
Spondyloepimetaphyseal dysplasia |
|
|
|
|
19 / 7739
|
|
28
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
29
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
30
|
(HPO:0003025)
|
Metaphyseal irregularity |
|
|
|
|
42 / 7739
|
|
31
|
(HPO:0003099)
|
Fibular overgrowth |
|
|
|
|
2 / 7739
|
|
32
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
33
|
(HPO:0003375)
|
Narrow greater sacrosciatic notches |
|
|
|
|
13 / 7739
|
|
34
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
35
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
|
|
|
|
20 / 7739
|
|
36
|
(HPO:0008417)
|
Vertebral hypoplasia |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0008450)
|
Narrow vertebral interpedicular distance |
|
|
|
|
6 / 7739
|
|
38
|
(HPO:0008463)
|
Central vertebral hypoplasia |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
40
|
(OMIM)
|
Splayed ribs |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Hepatomegaly, mild |
|
|
|
|
8 / 7739
|
|
42
|
(OMIM)
|
Mild splenomegaly |
|
|
|
|
6 / 7739
|
|
43
|
(OMIM)
|
Severe lumbar lordosis |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
45
|
(OMIM)
|
Squared vertebrae (childhood) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Mild interpedicular narrowing |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Flat acetabulae |
|
|
|
|
2 / 7739
|
|
48
|
(OMIM)
|
Short ilia |
|
|
|
|
3 / 7739
|
|
49
|
(OMIM)
|
Short limbs |
|
|
|
|
17 / 7739
|
|
50
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
51
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|