|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
12
|
(HPO:0004336)
|
Myelin outfoldings |
|
|
|
|
4 / 7739
|
|
13
|
(HPO:0007233)
|
Clusters of axonal regeneration |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
15
|
(OMIM)
|
Segmental demyelination/remyelination on nerve biopsy |
|
|
|
|
9 / 7739
|
|
16
|
(OMIM)
|
'Onion bulb' formation on nerve biopsy |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
20
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|