|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000764)
|
Peripheral axonal degeneration |
|
|
|
|
6 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
8
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0003400)
|
Basal lamina 'onion bulb' formation |
|
|
|
|
3 / 7739
|
|
13
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
16
|
(HPO:0004466)
|
Prolonged brainstem auditory evoked potentials |
|
|
|
|
3 / 7739
|
|
17
|
(HPO:0007107)
|
Segmental peripheral demyelination |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0007695)
|
Abnormal pupillary light reflex |
|
|
|
|
2 / 7739
|
|
19
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
20
|
(HPO:0012473)
|
Tongue atrophy |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
|
|
|
|
27 / 7739
|
|
22
|
(OMIM)
|
Tongue weakness |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Scoliosis, early-onset, severe |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
25
|
(OMIM)
|
Distal lower limb muscle weakness due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Distal lower limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
27
|
(OMIM)
|
Distal upper limb involvement may occur later |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Proximal lower limb involvement |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Distal sensory impairment of touch, vibration, proprioception |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Segmental demyelination |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Secondary axonal degeneration and regeneration |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Large cytoplasmic Schwann cell extensions around axons |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
34
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|