|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
3
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
4
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0002159)
|
Heparan sulfate excretion in urine |
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0003170)
|
Abnormality of the acetabulum |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
8
|
(HPO:0012069)
|
Keratan sulfate excretion in urine |
|
|
|
|
3 / 7739
|
|
9
|
(OMIM)
|
Generalized cutaneous swelling |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Multiple periarticular soft-tissue masses |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Popliteal cyst |
|
|
|
|
2 / 7739
|
|
12
|
(MedDRA:10023215)
|
Joint effusion |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Acetabular erosions |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hyaluronidase deficiency |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Elevated plasma hyaluronan |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|