|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
5
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
6
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
8
|
(HPO:0003484)
|
Upper limb muscle weakness |
|
|
|
|
19 / 7739
|
|
9
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
10
|
(HPO:0007182)
|
Peripheral hypomyelination |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
12
|
(OMIM)
|
Respiratory failure due to neuropathy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Arthrogryposis multiplex congenita may occur |
|
|
|
|
1 / 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
|
(OMIM)
|
Rare 'onion bulb' formations on nerve biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Severe hypomyelination on nerve biopsy |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Upper limb involvement may occur later |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|