|
1
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0010769)
|
Pilonidal sinus |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
5
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
7
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
8
|
(HPO:0005626)
|
Posterior fusion of lumbosacral vertebrae |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0007970)
|
Congenital ptosis |
|
|
|
|
7 / 7739
|
|
10
|
(OMIM)
|
Tight heel cords |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
Elevated serum lactic dehydrogenase |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
13
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|