|
1
|
(HPO:0001218)
|
Autoamputation |
|
|
|
|
10 / 7739
|
|
2
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
3
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0003401)
|
Paresthesia |
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0001886)
|
Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) |
|
|
|
|
5 / 7739
|
|
13
|
(OMIM)
|
Pes cavus, mild |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Ulcers, distal, painless, due to sensory neuropathy |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Distal limb muscular atrophy due to peripheral neuropathy |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Distal limb muscular weakness due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
17
|
(OMIM)
|
Upper motor involvement (some patient) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Spasticity in infancy (1 patient) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Axonal sensorimotor neuropathy |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0006984)
|
Distal sensory loss of all modalities |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Reflexes may be decreased, normal, or increased |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Lower limbs more affected than upper limbs |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Distal nerve biopsy shows axonal neuropathy and demyelinating component |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Lancinating pain (1 patient) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
27
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|