|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
5
|
(HPO:0001604)
|
Vocal cord paresis |
|
|
|
|
8 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
8
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0003383)
|
Onion bulb formation |
Occasional [HPO:probinson]
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0003623)
|
Neonatal onset |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
15
|
(HPO:0008443)
|
Spinal deformities |
|
|
|
|
5 / 7739
|