|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
3
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0002748)
|
Rickets |
|
|
|
|
41 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0100651)
|
Type I diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0000512)
|
Abnormal electroretinogram |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0000124)
|
Renal tubular dysfunction |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
14
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
|
|
|
|
327 / 7739
|
|
15
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
17
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
18
|
(HPO:0000103)
|
Polyuria |
|
|
|
|
60 / 7739
|
|
19
|
(HPO:0000114)
|
Proximal tubulopathy |
|
|
|
|
18 / 7739
|
|
20
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
21
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
22
|
(HPO:0000597)
|
Ophthalmoparesis |
|
|
|
|
71 / 7739
|
|
23
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
|
24
|
(HPO:0001944)
|
Dehydration |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
26
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
27
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
28
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
29
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
30
|
(HPO:0007511)
|
Mottled pigmentation of photoexposed areas |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0007610)
|
Blotching pigmentation of the skin |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0007702)
|
Pigmentary retinal deposits |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Episodic cold-triggered erythrocyanosis of toes and fingers |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Urinary loss of potassium, sodium, calcium, and chloride |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Heteroplasmic partial duplication of mtDNA |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
39
|
(HPO:0001427)
|
Mitochondrial inheritance |
|
|
|
|
12 / 7739
|