|
1
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
2
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
5
|
(HPO:0001609)
|
Hoarse voice |
53 % [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
6
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
8
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
12
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
13
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
14
|
(OMIM)
|
Proximal weakness of the lower limbs with longer disease duration |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
MRI shows fatty replacement |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Muscle biopsy shows small rounded fibers |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Degenerating fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Endomysial fibrosis |
|
|
|
|
4 / 7739
|
|
19
|
(OMIM)
|
Variation of fiber size and shape |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Fiber type grouping |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Subsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Nerve conduction studies show mildly reduced or normal sensory values |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Peroneal nerves show severely reduced CMAPs |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0001608)
|
Abnormality of the voice |
|
|
|
|
126 / 7739
|
|
25
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
27
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
28
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|