|
1
|
(HPO:0000602)
|
Ophthalmoplegia |
Very frequent [IBIS]
Very frequent [Orphanet]
hallmark [HPO]
|
|
25540845
|
IBIS
|
56 / 7739
|
|
2
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [IBIS]
|
|
25540845
|
IBIS
|
192 / 7739
|
|
3
|
(HPO:0003200)
|
Ragged-red muscle fibers |
Very frequent [IBIS]
|
|
25061332
|
IBIS
|
37 / 7739
|
|
4
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
3192850
|
IBIS
|
21 / 7739
|
|
5
|
(HPO:0000544)
|
External ophthalmoplegia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
25540845
|
IBIS
|
40 / 7739
|
|
6
|
(HPO:0000597)
|
Ophthalmoparesis |
Very frequent [Orphanet]
|
|
25368789
|
IBIS
|
71 / 7739
|
|
7
|
(HPO:0003560)
|
Muscular dystrophy |
Frequent [Orphanet]
|
|
1755871
|
IBIS
|
88 / 7739
|
|
8
|
(HPO:0100295)
|
Muscle fiber atrophy |
Frequent [Orphanet]
typical [HPO]
|
|
1934767
|
IBIS
|
22 / 7739
|
|
9
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
11422310
|
IBIS
|
539 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
1305030
|
IBIS
|
990 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
typical [HPO]
|
|
25540845
|
IBIS
|
859 / 7739
|
|
12
|
(HPO:0000830)
|
Anterior hypopituitarism |
Frequent [Orphanet]
|
|
22284844
|
IBIS
|
9 / 7739
|
|
13
|
(HPO:0001678)
|
Atrioventricular block |
Very frequent [Orphanet]
hallmark [HPO]
|
|
25061332
|
IBIS
|
59 / 7739
|
|
14
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
25540845
|
IBIS
|
226 / 7739
|
|
15
|
(HPO:0011710)
|
Bundle branch block |
Very frequent [Orphanet]
|
|
25061332
|
IBIS
|
14 / 7739
|
|
16
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
9404143
|
IBIS
|
158 / 7739
|
|
17
|
(HPO:0001265)
|
Hyporeflexia |
Frequent [Orphanet]
typical [HPO]
|
|
9435373
|
IBIS
|
208 / 7739
|
|
18
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
22875312
|
IBIS
|
160 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
25540845
|
IBIS
|
1232 / 7739
|
|
20
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
22875312
|
IBIS
|
78 / 7739
|
|
21
|
(HPO:0001251)
|
Ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
25540845
|
IBIS
|
413 / 7739
|
|
22
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
3179091
|
IBIS
|
55 / 7739
|
|
23
|
(HPO:0002311)
|
Incoordination |
Frequent [Orphanet]
|
|
12640554
|
IBIS
|
84 / 7739
|
|
24
|
(HPO:0002321)
|
Vertigo |
Frequent [Orphanet]
|
|
8151637
|
IBIS
|
58 / 7739
|
|
25
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [Orphanet]
|
|
21996807
|
IBIS
|
214 / 7739
|
|
26
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
25540845
|
IBIS
|
266 / 7739
|
|
27
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
22875312
|
IBIS
|
524 / 7739
|
|
28
|
(HPO:0000508)
|
Ptosis |
|
|
25540845
|
IBIS
|
459 / 7739
|
|
29
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
25540845
|
IBIS
|
42 / 7739
|
|
30
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
25540845
|
IBIS
|
49 / 7739
|
|
31
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
25540845
|
IBIS
|
23 / 7739
|
|
32
|
(HPO:0000726)
|
Dementia |
|
|
25540845
|
IBIS
|
131 / 7739
|
|
33
|
(HPO:0000763)
|
Sensory neuropathy |
|
|
25540845
|
IBIS
|
78 / 7739
|
|
34
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
11422310
|
IBIS
|
131 / 7739
|
|
35
|
(HPO:0000829)
|
Hypoparathyroidism |
|
|
1424198
|
IBIS
|
22 / 7739
|
|
36
|
(HPO:0001250)
|
Seizures |
|
|
9404143
|
IBIS
|
1245 / 7739
|
|
37
|
(HPO:0001709)
|
Third degree atrioventricular block |
|
|
25061332
|
IBIS
|
3 / 7739
|
|
38
|
(HPO:0001924)
|
Sideroblastic anemia |
|
|
1407387
|
IBIS
|
12 / 7739
|
|
39
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
2234434
|
IBIS
|
21 / 7739
|
|
40
|
(HPO:0001994)
|
Renal Fanconi syndrome |
|
|
22875312
|
IBIS
|
12 / 7739
|
|
41
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
1424198
|
IBIS
|
37 / 7739
|
|
42
|
(HPO:0002922)
|
Increased CSF protein |
|
|
22875312
|
IBIS
|
27 / 7739
|
|
43
|
(HPO:0003128)
|
Lactic acidosis |
|
|
25540845
|
IBIS
|
116 / 7739
|
|
44
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
25061332
|
IBIS
|
24 / 7739
|
|
45
|
(HPO:0008207)
|
Primary adrenal insufficiency |
|
|
22875312
|
IBIS
|
26 / 7739
|
|
46
|
(HPO:0011735)
|
Adrenocorticotropin deficient adrenal insufficiency |
|
|
9701704
|
IBIS
|
3 / 7739
|
|
47
|
(MedDRA:10016219)
|
Fanconi syndrome |
|
|
22875312
|
IBIS
|
3 / 7739
|
|
48
|
(OMIM)
|
Diffuse signal abnormality of central white matter |
|
|
8151637
|
IBIS
|
1 / 7739
|
|
49
|
(OMIM)
|
Decreased cerebrospinal fluid folic acid |
|
|
20388557
|
IBIS
|
1 / 7739
|
|
50
|
(OMIM)
|
Decreased serum and muscle coenzyme Q |
|
|
25061332
|
IBIS
|
1 / 7739
|
|
51
|
(MedDRA:10051403)
|
Mitochondrial DNA deletion |
|
|
25061332
|
IBIS
|
6 / 7739
|
|
52
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
25540845
|
IBIS
|
46 / 7739
|
|
53
|
(MedDRA:10049447)
|
Tachyarrhythmia |
|
|
25540845
|
IBIS
|
1 / 7739
|
|
54
|
(HPO:0000859)
|
Hyperaldosteronism |
|
|
1424198
|
IBIS
|
17 / 7739
|
|
55
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
1424198
|
IBIS
|
19 / 7739
|
|
56
|
(HPO:0011705)
|
First degree atrioventricular block |
|
|
25061332
|
IBIS
|
13 / 7739
|
|
57
|
(HPO:0011706)
|
Second degree atrioventricular block |
|
|
25061332
|
IBIS
|
2 / 7739
|
|
58
|
(MedDRA:10000032)
|
Cardiac conduction disorders |
|
|
23549648
|
IBIS
|
5 / 7739
|
|
59
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
23549648
|
IBIS
|
23 / 7739
|
|
60
|
(OMIM)
|
Bulbar dysfunction |
|
|
23549648
|
IBIS
|
4 / 7739
|
|
61
|
(HPO:0001611)
|
Nasal speech |
|
|
23549648
|
IBIS
|
48 / 7739
|