|
1
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
5
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
6
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
11
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
12
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
13
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
15
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
16
|
(HPO:0002869)
|
Flared iliac wings |
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
18
|
(HPO:0003333)
|
Increased serum beta-hexosaminidase |
|
|
|
|
4 / 7739
|
|
19
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
22
|
(OMIM)
|
Fine corneal opacities |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Aortic valve thickening |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Thoracic asymmetry |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Joint stiffness, progressive |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Shoulder stiffness |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Hand stiffness |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
29
|
(OMIM)
|
No mucopolysacchariduria |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Increased serum arylsulfatase A (10-20x) |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Increased serum alpha-mannosidase |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0003538)
|
Increased serum iduronate sulfatase activity |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Decreased fibroblast arylsulfatase A |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Decreased fibroblast beta-hexosaminidase |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Decreased fibroblast alpha-mannosidase |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Decreased fibroblast iduronate sulfatase |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Decreased N-acetylglucosamine-1-phosphotransferase (GlcNAc - phosphotransferase) using lysosomal enzymes |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Normal-to-slightly decreased GlcNAc phosphotransferase using artificial substrate (e.g., alpha-methylmannoside) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|