|
1
|
(HPO:0000250)
|
Dense calvaria |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
4
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001670)
|
Asymmetric septal hypertrophy |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0002788)
|
Recurrent upper respiratory tract infections |
|
|
|
|
31 / 7739
|
|
14
|
(HPO:0003309)
|
Ovoid thoracolumbar vertebrae |
|
|
|
|
6 / 7739
|
|
15
|
(OMIM)
|
Usually normal stature |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Coarse facies, mild |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Clear cornea |
|
|
|
|
6 / 7739
|
|
18
|
(OMIM)
|
Hepatomegaly, mild |
|
|
|
|
8 / 7739
|
|
19
|
(OMIM)
|
Mild splenomegaly |
|
|
|
|
6 / 7739
|
|
20
|
(OMIM)
|
Dysostosis multiplex, mild (in some patients) |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Severe behavioral problems at age 3-4 |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Slowing mental development by 1.5 to 3 years |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Sleep disturbances common |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Heparan N-sulfatase deficiency in fibroblasts and amniocytes |
|
|
|
|
1 / 7739
|