|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Rare [HPO:probinson]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
4
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
9
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
10
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
11
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
13
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
14
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Occasional [HPO:probinson]
|
|
|
|
214 / 7739
|
|
16
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
17
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
18
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
19
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
20
|
(HPO:0003805)
|
Rimmed vacuoles |
|
|
|
|
22 / 7739
|
|
21
|
(HPO:0008756)
|
Bowing of the vocal cords |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
23
|
(OMIM)
|
Weight loss due to dysphagia |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Facial muscle atrophy |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
26
|
(OMIM)
|
Tongue weakness |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Restrictive ventilatory defect |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Recurrent pneumonia due to aspiration |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Pharyngeal weakness |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Laryngeal weakness |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Myogenic changes seen on EMG |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Fiber size variation seen on muscle biopsy |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Angulated fibers |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Autophagic vacuoles with multilamellar structures seen on electron microscopy |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Serum creatine kinase may be normal or increased |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
38
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|