|
1
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
17572665
|
IBIS
|
36 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
17572665
|
IBIS
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
17572665
|
IBIS
|
122 / 7739
|
|
5
|
(HPO:0003447)
|
Axonal loss |
|
|
17572665
|
IBIS
|
11 / 7739
|
|
6
|
(HPO:0005684)
|
Distal arthrogryposis |
|
|
17572665
|
IBIS
|
31 / 7739
|
|
7
|
(HPO:0007182)
|
Peripheral hypomyelination |
|
|
17572665
|
IBIS
|
7 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
|
10
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
11
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
14
|
(HPO:0006466)
|
Ankle contracture |
|
|
|
|
17 / 7739
|