|
1
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000484)
|
Hyperopic astigmatism |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0000943)
|
Dysostosis multiplex |
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0001072)
|
Thickened skin |
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
9
|
(HPO:0001659)
|
Aortic regurgitation |
|
|
|
|
36 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
|
14
|
(HPO:0003264)
|
Deficiency of N-acetylglucosamine-1-phosphotransferase |
|
|
|
|
3 / 7739
|
|
15
|
(HPO:0003333)
|
Increased serum beta-hexosaminidase |
|
|
|
|
4 / 7739
|
|
16
|
(HPO:0003538)
|
Increased serum iduronate sulfatase activity |
|
|
|
|
4 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0006162)
|
Soft tissue swelling of interphalangeal joints |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
20
|
(OMIM)
|
Mildly coarse facies |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Mild retinopathy |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Short, thick clavicles |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Wide, slightly short ribs |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Absence of dens |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Vertebral beaking |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Flaring of iliac wings |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Shoulder stiffness |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Broad metaphyses |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Hand stiffness |
|
|
|
|
2 / 7739
|
|
30
|
(MedDRA:10007697)
|
Carpal tunnel syndrome |
|
|
|
|
16 / 7739
|
|
31
|
(OMIM)
|
Small, irregular carpal bones |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
No mucopolysacchariduria |
|
|
|
|
4 / 7739
|
|
33
|
(OMIM)
|
Increased serum aryl-sulfatase A (10-20x) |
|
|
|
|
1 / 7739
|