|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
6
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
7
|
(OMIM)
|
Distal limb atrophy (upper and lower) |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
High-stepping gait |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Brisk knee reflexes (early-on) |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Pyramidal tract involvement |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Diffuse hyporeflexia (later) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Loss of myelinated fibers with regenerative clusters on biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
14
|
(HPO:0001171)
|
Split hand |
rare [HPO:skoehler]
|
|
|
|
72 / 7739
|
|
15
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
16
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
17
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
18
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|