|
1
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
2
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
Rare [HPO:probinson]
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
8
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
9
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
10
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
11
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
|
|
13 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
19
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
21
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
22
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
23
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
25
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
26
|
(OMIM)
|
Kinky hair |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
|
|
116 / 7739
|
|
28
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
29
|
(OMIM)
|
Hyporeflexia of the upper limbs (in some patients) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Areflexia of the upper limbs |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Axonal motor and sensory neuropathy |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
giant axonal swellings filled with densely packed bundles of 10-nm neurofilaments seen on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Thin myelin sheaths |
|
|
|
|
4 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
36
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
37
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|