|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
6
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
7
|
(HPO:0000900)
|
Thickened ribs |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0001071)
|
Angiokeratoma corporis diffusum |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
11
|
(HPO:0001387)
|
Joint stiffness |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
13
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
|
14
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
15
|
(HPO:0001654)
|
Abnormality of the heart valves |
|
|
|
|
49 / 7739
|
|
16
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
17
|
(HPO:0001922)
|
Vacuolated lymphocytes |
|
|
|
|
13 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
21
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
22
|
(HPO:0004568)
|
Beaking of vertebral bodies |
|
|
|
|
19 / 7739
|
|
23
|
(HPO:0007313)
|
Cerebral degeneration |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0008166)
|
Decreased beta-galactosidase activity |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
|
26
|
(OMIM)
|
Full forehead |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Clear cornea |
|
|
|
|
6 / 7739
|
|
28
|
(OMIM)
|
Cherry-red spot in half the patients |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Glomerular epithelial cytoplasmic vacuolization |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Dermal melanocytosis |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
No mucopolysacchariduria |
|
|
|
|
4 / 7739
|