|
1
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
3
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
8
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
9
|
(HPO:0001644)
|
Dilated cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0002014)
|
Diarrhea |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
11
|
(HPO:0002017)
|
Nausea and vomiting |
|
|
|
|
134 / 7739
|
|
12
|
(HPO:0002018)
|
Nausea |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
14
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
15
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
17
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
18
|
(HPO:0003388)
|
Easy fatigability |
|
|
|
|
34 / 7739
|
|
19
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
|
20
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
21
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0008443)
|
Spinal deformities |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
24
|
(HPO:0011675)
|
Arrhythmia |
rare [HPO:skoehler]
|
|
|
|
226 / 7739
|
|
25
|
(OMIM)
|
Emaciation, profound |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Respiratory insufficiency, severe, due to muscle weakness |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Ventilation may be required |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Gastrointestinal symptoms (in some patients) |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Abdominal fullness (in some patients) |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
31
|
(HPO:0002039)
|
Anorexia |
|
|
|
|
62 / 7739
|
|
32
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
33
|
(OMIM)
|
Muscle weakness, variable |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
35
|
(OMIM)
|
COX-negative fibers |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Variable deficiencies of mitochondrial respiratory chain enzymes |
|
|
|
|
1 / 7739
|
|
37
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
|
|
6 / 7739
|
|
38
|
(MedDRA:10059396)
|
Mitochondrial DNA depletion |
|
|
|
|
5 / 7739
|
|
39
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
40
|
(OMIM)
|
Increased serum creatine kinase, mild |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|