|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0001761)
|
Pes cavus |
Very frequent [Orphanet]
|
|
|
|
225 / 7739
|
|
3
|
(HPO:0001072)
|
Thickened skin |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
4
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
8
|
(HPO:0000982)
|
Palmoplantar keratoderma |
|
|
|
|
40 / 7739
|
|
9
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
13
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
|
|
26 / 7739
|
|
14
|
(HPO:0007002)
|
Motor axonal neuropathy |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
16
|
(OMIM)
|
Motor and sensory neuropathy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Electrophysiologic evidence of axonal neuropathy |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
19
|
(HPO:0000763)
|
Sensory neuropathy |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|