|
1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0100639)
|
Erectile abnormalities |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0008734)
|
Decreased testicular size |
Occasional [Orphanet]
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0000771)
|
Gynecomastia |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
8
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
11
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0000144)
|
Decreased fertility |
|
|
|
|
11 / 7739
|
|
13
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
14
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
|
|
78 / 7739
|
|
15
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
16
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
17
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0002380)
|
Fasciculations |
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
22
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
23
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
25
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
26
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
27
|
(OMIM)
|
Weakness of the facial muscles |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Atrophy and weakness of the tongue, jaw, and throat muscles |
|
|
|
|
1 / 7739
|
|
29
|
(MedDRA:10008589)
|
Choking |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Muscle cramping |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Muscle biopsy showed neurogenic atrophy |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Secondary myopathic features |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Atrophy and weakness of limb musculature |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Proximal weakness occurs first |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Distal weakness occurs later |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Peripheral sensory neuropathy, mild |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Decreased sensory nerve action potentials |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Decreased or increased serum testosterone |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Abnormal lipid profile |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
41
|
(HPO:0003581)
|
Adult onset |
|
|
|
|
117 / 7739
|
|
42
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|