|
1
|
(HPO:0000764)
|
Peripheral axonal degeneration |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
4
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
7
|
(HPO:0002751)
|
Kyphoscoliosis |
Frequent [HPO:probinson]
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
10
|
(HPO:0003382)
|
Hypertrophic nerve changes |
|
|
|
|
6 / 7739
|
|
11
|
(HPO:0003400)
|
Basal lamina 'onion bulb' formation |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
15
|
(HPO:0006915)
|
Inability to walk by childhood/adolescence |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0007182)
|
Peripheral hypomyelination |
|
|
|
|
7 / 7739
|
|
17
|
(OMIM)
|
Kyphoscoliosis may occur |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
19
|
(OMIM)
|
Foot deformities may occur |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
21
|
(OMIM)
|
May progress to involve proximal muscles |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased number of myelinated fibers |
|
|
|
|
6 / 7739
|
|
23
|
(OMIM)
|
Axonal features may coexist (normal NCV, axonal degeneration on biopsy) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
26
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
27
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
28
|
(HPO:0003678)
|
Rapidly progressive |
|
|
|
|
33 / 7739
|