1
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Very frequent [IBIS]
|
100% (n=8)
|
23929671
|
IBIS
|
137 / 7739
|
2
|
(HPO:0003128)
|
Lactic acidosis |
Very frequent [IBIS]
|
100% (n=8)
|
23929671
|
IBIS
|
116 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [IBIS]
|
50% (n=8)
|
23929671
|
IBIS
|
990 / 7739
|
4
|
(HPO:0003348)
|
Hyperalaninemia |
Frequent [IBIS]
|
37.5% (n=8)
|
23929671
|
IBIS
|
19 / 7739
|
5
|
(HPO:0001263)
|
Global developmental delay |
Occasional [IBIS]
|
25% (n=8)
|
23929671
|
IBIS
|
853 / 7739
|
6
|
(HPO:0001270)
|
Motor delay |
Occasional [IBIS]
|
25% (n=8)
|
23929671
|
IBIS
|
322 / 7739
|
7
|
(HPO:0001508)
|
Failure to thrive |
Occasional [IBIS]
|
25% (n=8)
|
23929671
|
IBIS
|
454 / 7739
|
8
|
(HPO:0011968)
|
Feeding difficulties |
Occasional [IBIS]
|
25% (n=8)
|
23929671
|
IBIS
|
240 / 7739
|
9
|
(HPO:0000648)
|
Optic atrophy |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
238 / 7739
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
1245 / 7739
|
11
|
(HPO:0001332)
|
Dystonia |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
197 / 7739
|
12
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
131 / 7739
|
13
|
(HPO:0011951)
|
Aspiration pneumonia |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
6 / 7739
|
14
|
(HPO:0001298)
|
Encephalopathy |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
72 / 7739
|
15
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
21 / 7739
|
16
|
(HPO:0001649)
|
Tachycardia |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
53 / 7739
|
17
|
(HPO:0001688)
|
Sinus bradycardia |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
18 / 7739
|
18
|
(HPO:0002919)
|
Ketonuria |
Occasional [IBIS]
|
12.5% (n=8)
|
23929671
|
IBIS
|
18 / 7739
|
19
|
(HPO:0008947)
|
Infantile muscular hypotonia |
Very frequent
|
100% (n=8)
|
23929671
|
IBIS
|
482 / 7739
|
20
|
(OMIM)
|
Lack of ocular fixation (1 patient) |
Occasional
|
12.5% (n=8)
|
23929671
|
IBIS
|
1 / 7739
|
21
|
(HPO:0001324)
|
Muscle weakness |
Occasional
|
12.5% (n=8)
|
23929671
|
IBIS
|
859 / 7739
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
22608499
|
IBIS
|
295 / 7739
|
23
|
(HPO:0001518)
|
Small for gestational age |
|
|
22608499
|
IBIS
|
107 / 7739
|
24
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
22608499
|
IBIS
|
81 / 7739
|
25
|
(HPO:0002151)
|
Increased serum lactate |
|
|
22608499
|
IBIS
|
92 / 7739
|
26
|
(HPO:0011675)
|
Arrhythmia |
|
|
22608499
|
IBIS
|
226 / 7739
|
27
|
(OMIM)
|
Variable deficiencies of mitochondrial respiratory chain complexes I, III, and IV |
|
|
22608499
|
IBIS
|
1 / 7739
|
28
|
(OMIM)
|
T2-weighted hyperintensities in deep brain regions |
|
|
23929671
|
IBIS
|
1 / 7739
|
29
|
(HPO:0008972)
|
Decreased activity of mitochondrial respiratory chain |
|
|
23929671
|
IBIS
|
34 / 7739
|
30
|
(HPO:0001635)
|
Congestive heart failure |
|
|
22608499
|
IBIS
|
232 / 7739
|