|
1
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
3
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
9
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
10
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
13
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
15
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0007054)
|
Hyperreflexia proximally |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Optic atrophy, congenital |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Fixation nystagmus |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Loss of independent ambulation by age 10 years |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Distal sensory and motor axonal neuropathy (onset in late-childhood/adolescence) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Impaired distal sensation for tactile, proprioceptive, and vibratory senses |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Hyporeflexia/areflexia distally |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Nerve biopsy shows loss of myelinated and unmyelinated fibers |
|
|
|
|
1 / 7739
|