|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
3
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
4
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
7
|
(OMIM)
|
Distal limb muscle atrophy, lower more than upper |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Distal limb muscle weakness, lower more than upper |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Proximal muscles may be mildly affected |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Peripheral neuropathy causing distal leg weakness |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Position and vibratory senses more impaired than pain and temperature senses |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
13
|
(OMIM)
|
Sural nerve biopsy showed loss of large myelinated fibers |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Focally folded myelin |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Regenerating clusters of axons |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0000020)
|
Urinary incontinence |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
19
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
20
|
(HPO:0000602)
|
Ophthalmoplegia |
rare [HPO:skoehler]
|
|
|
|
56 / 7739
|
|
21
|
(HPO:0001159)
|
Syndactyly |
rare [HPO:skoehler]
|
|
|
|
140 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
24
|
(HPO:0012444)
|
Brain atrophy |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|