|
1
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
3
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
7
|
(HPO:0002024)
|
Malabsorption |
|
|
|
|
142 / 7739
|
|
8
|
(HPO:0002027)
|
Abdominal pain |
|
|
|
|
184 / 7739
|
|
9
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
10
|
(HPO:0002579)
|
Gastrointestinal dysmotility |
|
|
|
|
11 / 7739
|
|
11
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
|
12
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
13
|
(HPO:0003434)
|
Sensory ataxic neuropathy |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0004326)
|
Cachexia |
|
|
|
|
71 / 7739
|
|
16
|
(HPO:0004395)
|
Malnutrition |
|
|
|
|
12 / 7739
|
|
17
|
(OMIM)
|
Weight loss, progressive |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Thin body habitus |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Marked cachexia |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Some patients may have hepatic dysfunction |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Chronic malnutrition |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Chronic intestinal pseudoobstruction |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0012450)
|
Chronic constipation |
|
|
|
|
10 / 7739
|
|
24
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
25
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
28
|
(OMIM)
|
[DEL]Ragged red fibers seen on muscle biopsy |
|
|
|
|
10 / 7739
|
|
29
|
(OMIM)
|
mtDNA depletion see on muscle biopsy |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Multiple mitochondrial DNA (mtDNA) deletions seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Decreased activity of cytochrome c oxidase seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Decreased activities of complexes I and IV |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
35
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
36
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
37
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|