|
1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
15356973
|
IBIS
|
137 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
|
|
15356973
|
IBIS
|
1232 / 7739
|
|
3
|
(HPO:0002315)
|
Headache |
|
|
15356973
|
IBIS
|
175 / 7739
|
|
4
|
(HPO:0000365)
|
Hearing impairment |
|
|
15356973
|
IBIS
|
539 / 7739
|
|
5
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
15356973
|
IBIS
|
131 / 7739
|
|
6
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
15356973
|
IBIS
|
73 / 7739
|
|
7
|
(HPO:0000097)
|
Focal segmental glomerulosclerosis |
|
|
15356973
|
IBIS
|
37 / 7739
|
|
8
|
(HPO:0012102)
|
Abnormal mitochondrial number |
|
|
15356973
|
IBIS
|
4 / 7739
|
|
9
|
(HPO:0100820)
|
Glomerulopathy |
|
|
15356973
|
IBIS
|
46 / 7739
|
|
10
|
(HPO:0000112)
|
Nephropathy |
|
|
15356973
|
IBIS
|
92 / 7739
|
|
11
|
(HPO:0000093)
|
Proteinuria |
|
|
15356973
|
IBIS
|
169 / 7739
|
|
12
|
(HPO:0000083)
|
Renal insufficiency |
|
|
15356973
|
IBIS
|
232 / 7739
|
|
13
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
9845835
|
IBIS
|
23 / 7739
|
|
14
|
(MedDRA:10050029)
|
Mitochondrial cytopathy |
|
|
9845835
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
9845835
|
IBIS
|
28 / 7739
|
|
16
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
9845835
|
IBIS
|
37 / 7739
|
|
17
|
(HPO:0008322)
|
Abnormal mitochondrial morphology |
|
|
9845835
|
IBIS
|
8 / 7739
|
|
18
|
(HPO:0012087)
|
Abnormal mitochondrial shape |
|
|
9845835
|
IBIS
|
8 / 7739
|
|
19
|
(OMIM)
|
Muscle biopsy shows mitochondrial paracrystalline inclusions |
|
|
9845835
|
IBIS
|
2 / 7739
|
|
20
|
(HPO:0012398)
|
Peripheral edema |
|
|
9845835
|
IBIS
|
12 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
9845835
|
IBIS
|
524 / 7739
|
|
22
|
(HPO:0001903)
|
Anemia |
|
|
9845835
|
IBIS
|
289 / 7739
|
|
23
|
(HPO:0000790)
|
Hematuria |
|
|
9845835
|
IBIS
|
106 / 7739
|
|
24
|
(HPO:0001640)
|
Cardiomegaly |
|
|
9845835
|
IBIS
|
81 / 7739
|
|
25
|
(HPO:0004737)
|
Global glomerulosclerosis |
|
|
9845835
|
IBIS
|
3 / 7739
|
|
26
|
(HPO:0000092)
|
Tubular atrophy |
|
|
9845835
|
IBIS
|
28 / 7739
|
|
27
|
(MedDRA:10038536)
|
Renal tubular atrophy |
|
|
9845835
|
IBIS
|
1 / 7739
|
|
28
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
9845835
|
IBIS
|
32 / 7739
|
|
29
|
(HPO:0001712)
|
Left ventricular hypertrophy |
|
|
9845835
|
IBIS
|
76 / 7739
|
|
30
|
(HPO:0002094)
|
Dyspnea |
|
|
9845835
|
IBIS
|
132 / 7739
|
|
31
|
(HPO:0002202)
|
Pleural effusion |
|
|
9845835
|
IBIS
|
22 / 7739
|
|
32
|
(HPO:0002240)
|
Hepatomegaly |
|
|
9845835
|
IBIS
|
467 / 7739
|