|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
4
|
(OMIM)
|
Progressive weakness |
|
|
|
|
1 / 7739
|
|
5
|
(OMIM)
|
Painful hands and feet |
|
|
|
|
1 / 7739
|
|
6
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
8
|
(OMIM)
|
Tomaculous (sausage shaped) swellings of myelin sheaths on nerve biopsy |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|