|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
5
|
(HPO:0001886)
|
Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0003387)
|
Decreased number of large peripheral myelinated nerve fibers |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0006984)
|
Distal sensory loss of all modalities |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0001218)
|
Autoamputation |
|
|
|
|
10 / 7739
|
|
9
|
(OMIM)
|
Ulcers, distal, painless, due to sensory neuropathy |
|
|
|
|
3 / 7739
|
|
10
|
(OMIM)
|
Taste is spared |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Sharp, 'lightning'-like pain |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Distal limb muscular atrophy due to peripheral neuropathy |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Distal limb muscular weakness due to peripheral neuropathy |
|
|
|
|
3 / 7739
|
|
14
|
(OMIM)
|
Distal hyporeflexia |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Areflexia, distal |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Lower limbs more severely affected than upper limbs |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Autonomic involvement is variable |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Motor involvement is variable |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
EMG shows chronic axonal neuropathy |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Decreased sensory nerve action potentials |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Dorsal spinal columns are diminished in size |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Dorsal nerve roots and ganglia cells show degenerative changes |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Distal nerve biopsy shows decreased numbers of small myelinated and unmyelinated fibers |
|
|
|
|
1 / 7739
|