|
1
|
(HPO:0000012)
|
Urinary urgency |
|
|
|
|
35 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
6
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
7
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
10
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002168)
|
Scanning speech |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002493)
|
Upper motor neuron dysfunction |
|
|
|
|
5 / 7739
|
|
15
|
(HPO:0002497)
|
Spastic ataxia |
|
|
|
|
13 / 7739
|
|
16
|
(HPO:0002527)
|
Falls |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
19
|
(HPO:0003438)
|
Absent Achilles reflex |
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
|
|
9 / 7739
|
|
21
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
22
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
23
|
(HPO:0006150)
|
Swan neck-like deformities of the fingers |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
|
|
|
|
8 / 7739
|
|
25
|
(HPO:0007001)
|
Loss of Purkinje cells in the cerebellar vermis |
|
|
|
|
2 / 7739
|
|
26
|
(HPO:0007221)
|
Progressive truncal ataxia |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0007240)
|
Progressive gait ataxia |
|
|
|
|
7 / 7739
|
|
28
|
(HPO:0007654)
|
Retinal striation |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0007772)
|
Impaired smooth pursuit |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0007922)
|
Hypermyelinated retinal nerve fibers |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Distal muscle weakness due to peripheral neuropathy |
|
|
|
|
4 / 7739
|
|
32
|
(OMIM)
|
Delayed walking development |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Increased falls |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Amyotrophy, distal, severe |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Decreased motor NCV |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|