|
1
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
10
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
11
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
12
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
13
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
16
|
(HPO:0003382)
|
Hypertrophic nerve changes |
|
|
|
|
6 / 7739
|
|
17
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
20
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
21
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
22
|
(HPO:0010871)
|
Sensory ataxia |
|
|
|
|
7 / 7739
|
|
23
|
(OMIM)
|
Kyphoscoliosis may occur |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
25
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
26
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
27
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
28
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
32
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
33
|
(OMIM)
|
Severely decreased motor nerve conduction velocity (NCV) (15 m/s) |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
'Onion bulb' formation on nerve biopsy |
|
|
|
|
6 / 7739
|
|
35
|
(OMIM)
|
Segmental demyelination/remyelination on nerve biopsy |
|
|
|
|
9 / 7739
|
|
36
|
(OMIM)
|
Decreased number of myelinated fibers |
|
|
|
|
6 / 7739
|
|
37
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
40
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
41
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|