|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
3
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Occasional [HPO:probinson]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
6
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
10
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
11
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0003701)
|
Proximal muscle weakness |
Occasional [HPO:probinson]
|
|
|
|
105 / 7739
|
|
13
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0009031)
|
Amyotrophy of ankle musculature |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0009077)
|
Weakness of long finger extensor muscles |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
18
|
(HPO:0011916)
|
Toe extensor amyotrophy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Facial muscle weakness, mild |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Dilated cardiomyopathy may occur |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Weakness of ankle and toe extensor (dorsiflexor) muscles |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Atrophy of ankle and toe extensor (dorsiflexor) muscles |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Weakness of anterior compartment tibial muscles |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Atrophy of anterior compartment tibial muscles |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
'Hanging' big toe |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Hypertrophy of calf muscles |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Weakness of neck muscles may occur later |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Atrophy of neck muscles may occur later |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
EMG shows myopathic or neurogenic changes |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Biopsy shows nonspecific myopathy without rimmed vacuoles |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Angulated atrophic fibers |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Hypotrophy of type 1 fibers |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
|
34
|
(OMIM)
|
Fiber type grouping |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Mitochondrial proliferation |
|
|
|
|
4 / 7739
|
|
36
|
(OMIM)
|
Sarcoplasmic inclusions |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Cores or minicores |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Abnormalities in myofibril organization |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Normal to mildly increased serum creatine kinase |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
42
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
43
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
44
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|