|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
7
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
8
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
10
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
|
12
|
(HPO:0003378)
|
Axonal degeneration/regeneration |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
14
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
16
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
17
|
(OMIM)
|
Brainstem auditory evoked potentials (BAEPs) suggest peripheral lesion |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Slow pupillary reaction with slow light convergence reflex |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Absent pupillary reaction |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Coughing spasms, recurrent (reported in 1 family) |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
23
|
(OMIM)
|
Normal to mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Axonal degeneration/regeneration on nerve biopsy |
|
|
|
|
10 / 7739
|
|
25
|
(OMIM)
|
Secondary demyelination occurs later in disease |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|