|
1
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
2
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0002445)
|
Tetraplegia |
|
|
|
|
26 / 7739
|
|
5
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
6
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
8
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
10
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
11
|
(OMIM)
|
Multiple system involvement of the spinal cord and cerebellum, coarse cerebral gyri and marked reduction in volume of white matter |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0030043)
|
Hip Subluxation |
|
|
|
|
9 / 7739
|