|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
3
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0001029)
|
Poikiloderma |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0001258)
|
Spastic paraplegia |
|
|
|
|
97 / 7739
|
|
11
|
(HPO:0003383)
|
Onion bulb formation |
|
|
|
|
30 / 7739
|
|
12
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
13
|
(HPO:0007220)
|
Demyelinating motor neuropathy |
|
|
|
|
3 / 7739
|
|
14
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
15
|
(HPO:0011402)
|
Demyelinating sensory neuropathy |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
17
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
|
|
|
|
8 / 7739
|
|
18
|
(OMIM)
|
Motor and sensory neuropathy on electroneurophysiologic studies |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Onion bulb formations on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Loss of eyebrows and eyelashes by age 3 years |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Delicate, smooth, wasted skin |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|