|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
3
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
5
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
6
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
8
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
9
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0007208)
|
Irregular myelin loops |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
12
|
(OMIM)
|
Scoliosis may be present |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
14
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
15
|
(OMIM)
|
Severely decreased motor nerve conduction velocity (NCV) (15 m/s) |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|