|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
9
|
(OMIM)
|
Neurogenic atrophy see on muscle biopsy |
|
|
|
|
4 / 7739
|
|
10
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
11
|
(OMIM)
|
Lower limbs more severely affected than upper limbs |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
13
|
(OMIM)
|
Sural nerve biopsy shows thin myelination |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|