|
1
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0002486)
|
Myotonia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
Very frequent [Orphanet]
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
10
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
12
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
13
|
(HPO:0003725)
|
Firm muscles |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
15
|
(HPO:0006361)
|
Irregular femoral epiphysis |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0008422)
|
Vertebral wedging |
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Short vertebrae (thoracolumbar) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Mental retardation, mild-moderate |
|
|
|
|
6 / 7739
|
|
19
|
(OMIM)
|
Rigid gait |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Progressive impairment of gait |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|