|
1
|
(HPO:0003416)
|
Spinal canal stenosis |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0011020)
|
Abnormality of mucopolysaccharide metabolism |
Very frequent [Orphanet]
|
|
|
|
17 / 7739
|
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
7
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
9
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
10
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
11
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
12
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
13
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0002945)
|
Intervertebral space narrowing |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
16
|
(HPO:0003418)
|
Back pain |
|
|
|
|
17 / 7739
|
|
17
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
18
|
(HPO:0006413)
|
Broad tibial metaphyses |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0006607)
|
Precocious costochondral ossification |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0008418)
|
Squared-off platyspondyly |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0008922)
|
Childhood-onset short-trunk short stature |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0012066)
|
Increased urinary disaccharide excretion |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
24
|
(OMIM)
|
Short stature, disproportionate (short trunk), identifiable in childhood |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Normal odontoid process |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Abnormal urinary mucopolysaccharides (elevated unsaturated nonsulfated disaccharides and decreased unsaturated 6-sulfated disaccharides) |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
28
|
(HPO:0000481)
|
Abnormality of the cornea |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|