|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0002655)
|
Spondyloepiphyseal dysplasia |
|
|
|
|
21 / 7739
|
|
3
|
(HPO:0003610)
|
Fibroblast metachromasia |
|
|
|
|
3 / 7739
|
|
4
|
(HPO:0005723)
|
Shoe-shaped sella turcica |
|
|
|
|
2 / 7739
|
|
5
|
(OMIM)
|
Moderate platyspondyly |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
7
|
(OMIM)
|
No urinary keratosulfate |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Normal N-acetylgalactosamine-6-sulfate sulfatase |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Normal beta-galactosidase |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Large epiphyseal cartilage chondrocytes contain numerous vacuoles, limited by a single smooth membrane |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Widened humeral shafts |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Truncal shortening |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Short-spine dwarfism |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Slight corneal clouding |
|
|
|
|
1 / 7739
|